Variant
MLH1 c.307-812_677+1046del
NM_000249.4(MLH1):c.307-812_677+1046del (p.?)
Also known as
- p.?
- ClinVar classification
- Pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 5 September 2013
- Expert panel
- International Society for Gastrointestinal Hereditary Tumours (InSiGHT)
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Summary
c.307-812_677+1046del is a splice variant in MLH1: it sits at or near a boundary between an exon and an intron, where it may change how the gene's RNA is put together. ClinVar classifies it as pathogenic for Lynch Syndrome (reviewed by expert panel).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Lynch SyndromeClinVar VCV000090158 (opens in a new tab) | Pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 5 September 2013 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in MLH1
c.307-812_677+1046del lies in intron 3, between exons 3 and 4 of the 19 in MLH1's MANE Select transcript, NM_000249.4.
Molecular details
| Gene | MLH1 |
|---|---|
| Transcript | NM_000249.4MANE Select |
| Coding DNA change (HGVS c.) | c.307-812_677+1046del |
| Protein change (HGVS p.) | p.? |
| Predicted consequence | Splice site or regionexon_loss_variantsplice_acceptor_variant (opens in a new tab)splice_donor_variant (opens in a new tab)splice_donor_5th_base_variant (opens in a new tab)splice_region_variant (opens in a new tab)exonic_splice_region_variant (opens in a new tab)splice_donor_region_variant (opens in a new tab)splice_polypyrimidine_tract_variant (opens in a new tab) |
| Predicted impact | High |
| Position (GRCh38) | chr3:37003588 GGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCCCACCCAGCCTTATATTTTTTAATGATGCACATTAGCTCAATTACATAAACCAGGGAAATCCAGCTAGGACCTGGTGATTTCTGAGCCTGACCCATGTGACTTTCAATGAACTGAACTTGCCACAGCTGTATTTACTGTCTACTGAGATGCTGTCACACAGACCCCGTCATAGCACAGTTCCTGAGTTACATCTTTACATACTGTAGTATCCTTCTTGTGAAAAAAGATACAGATTCCAAAGGTCTGAGAAACCAATCTTGGTTATAAAGGGGAAAAATGGTCATGGGTTTTTAAAATTTGTTTTGTCTTAATTGCATTTCAAATTTACATTTCTAAATGAATAATTGCTTATATAAAGCAGTTTTGATTAACAATATAAAACACTATCTATTTGGAGTGATTCCTTTACCCATTTCTGAAGGCAAGTTTTAAAAATTACTAGAAGACACTTCATTGAGAATATTATTAAACATGCCTATAGTTCTACCACCTCAACACAATTGCTTATTAACACATTAATGTTTTGGTGTGTTTTGGACTTTTTAATATGTATTTTTCACTTGTTCTAGTAATTATGCTACAGATTGATCATTTCTTTTTCAACATGTCATCAAAGCAAGTGAGCAAAGTGCTCATCGTTGCCACATATTAATACAAAATGGAAGCAGCAGTTCAGATAACCTTTCCCTTTGGTGAGGTGACAGTGGGTGACCCAGCAGTGAGTTTTTCTTTCAGTCTATTTTCTTTTCTTCCTTAGGCTTTGGCCAGCATAAGCCATGTGGCTCATGTTACTATTACAACGAAAACAGCTGATGGAAAGTGTGCATACAGGTATAGTGCTGACTTCTTTTACTCATATATATTCATTCTGAAATGTATTTTTTGCCTAGGTCTCAGAGTAATCCTGTCTCAACACCAGTGTTATCTTTTTTGGCAGAGATCTTGAGTACGTTTTCTTTTCTCCTTATTGATAAATTGATAATCCTCAAGGATGATTATTAGGTGATACTCTTACTTCATGGATTCTTAAAAGATATGATTTAACATATTACAAGTGCCTAGCAAGGTGTCTGTTACACGTAGGTATTTTAAGTAAATGGTAGCTGCTGATGTAATTTCTGCCCCTTTGCCCTTCAGTTGGGGTATTGCTTTGGACCGATTAGAGGGCTGTGGCTGGGATGCTAAAGGTTCATGTTTCCTTAGCTGGCTCCTGAGCCACCAGCTCCCACCACCTGTGTATACCTGTGCTAGTTTGCCTTCCCACAAGTAGCTGCTGGCTATCTGTTATGCTGGTACAGTTTTCAGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGATGCATATCTGTAGTCTTAGCTACTCCGGAGGTGGGAAGATTGCTTGAGCCCAGCAGTTTGAGGCTGCAGTGAGCTGTGATTACACCACTGTACTCCAACCTTAAAATAAATAAATAAATAAGGGAAAATATCTTCAACAAAGGATAGTTCTGTCTGTTTCTCAGTCTTCCTCAACAGATAAATGTGTGAAGTAATGGAAGGTGGAGATTTCAGATTACACAACATTAATGCTAAGGGCGTTTGACTCTGTGTGAATTCTAATTGCCCTAGATCTAGACGGGCTGATACTATTAGAATCCCCTGTCACTAACTGAAGACAGAGTTGTAAGTTAATGCCTTCCTAGATAGCCTAGATTGTGGTATGCTGCTGCATGCTAAAATGGCTCCCCTTCCATAGCAGGATGAAATAGAGTCATTATCTTGGCAACCAGCCCCTGCCAATGTGCTCTCAGTCTGCCTTTCCAGCCCCTTCTCTCTACCTATTCCCAGCTGCCATGTATTCTAAAGCCTCTATGCTTTCATTTTTGTTTTTGCCTTCCTGGATGGTCTTTCCTGCTGTCTCCACCTGAAACTATTCCTCTCTAAAGAACAGATGAATTGCCATCTCTCTGGGATGCTTTTACCCACCCTCACTCCCACCTCAGGCTGAATGGACCCTTCTCTAGATCGCTTAGCATATTGTTCTACAGTTAGGTAAAAAGTCTACCTATCACTAGATCAAGAGCTTTGTTTTTTTTTATTAATTTAATTTTCTTTTTTTTTTTTCTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGCACAATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACCGCGCCGAGCCCCAAGACCTTTCTTTATTACCAGGGCTTCCACAGACCTGACACATGGTAGTTCCTCAATAAATAATTGCAGAATTACTGAAAAATTTTACTGTTAACTTAGGCAGTGGTAAAACCATTGTTTGGTAGCTCAGAACTCAGCAAGTAAATAGCAACATTTGCTGGAAGAACAGATAGTTTTTCAAATCCAATTCAAGGACTGGGTATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGTATCCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGTAGGCGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCTCTCCAGCCTGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGTAATAATAAAATGAATTTGCACTAGTTAATGGAGGTCCCAAGATATCCTCTAAGCAAGATAAATGACTATTGGCTTTTGTGGCATGGCAGCCTGCCACGTCCTTGTCTTTTTTAAGGGCTAGGAGATTCTTTATTGGGATGGCAAAAGTCAATGGCAGGGTAGTTGTCATTGAAAGAAGATTAAGCTTGACCCCAGAAGGCATGGGTTAGAGCCCAGCCTTGTCACTCAATGGTTGTATGTCCAGAGGCAAGTCACTTAACATCCCTTAACCCCAGTTTTCTCATCTGTCAAATGAAGCAAAGAATACTTGCCCTCTTGACTTAAAGGGTGTCTGATGAGACATATGACTGTATCATTAGCTGGGAGAAAGTCCATCGTGCTGCCTATGTATAGTGCCTCAAGTTGGTCTCTTTCCCTTCTATGATTACACAAAGCACTCCGCTGTCATGTTATCCATCCCGCCCCTCCATTCCAAGTCCCATCTAGAGCACATCTTCTTGAAGTCCACTGTAACCTGCCTAATCCTGGATGTGACGAGCCAGGCAGGAGGCAGAAAAGAATGTGTGTTTTGCAATACATGTTAAGAGACATCTTGGGCTGGGCACGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGAGGGCGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCGTGATGGCGCATGCCTGTAATCCCAGCTACTCAGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGTTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACAGGGTCTCAAAAACAAAAACAAACAAACAAAAAAAATCTTTTACCACGGTGACCACCATGTGATTTCCAAGAACTTCAAATGATCTAAGAAATTTTGTGATTATTACTAGTTTGAAAAATACTTTTTTTTTTTTTGAGACAAAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCTCAGCTCACTGCAATCACTACCTCTTGAGTTCAAGCAGTTGTCCTGCCTCAGCCTCTTGAGTACCTGGGATTACAGGCATGCGTCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTACAGACGTGAGCCACTGCACCCAGCCTGAAAAATATCTTTGAATGCCATGTGATACTATACTTGTCAGTTTACATGTGTGTCCCACTAAATCATGTACTCTCCTGAGCAGGATCATGCTTTGTCTTCATATTTTCTGTACAAAGCAAAGACTCTGACACAAAGCTAGCCCCCAGTGCATAGTTGAGAAATCAGTGAATGAATGTGGGAGGCAGGAAAAATGTCCTTTAATTCTTCTGTTAATGCTGTCTTATCCCTGGCCCCAGTCAGTGCTTAGAACTGTGCTGTTGGTAAATATAATTGGATTCACTATCTTAAGACCTCGCTTTTGCCAGGACATCTTGGGTTTTATTTTCAAGTACTTCTATGAATTTACAAGAAAAATCAATCTTCTGTTCAGGTGGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGTACAGTCCAAAATCTGGGAGTGGGTCTCTGAGATTTGTCATCAAAGTAATGTGTTCTAGTGCTCATACATTGAACAGTTGCTGAGCTAGATGGTGAAAAGTAAAACTAGCTTACAGATAGTTTCTGGTCAAGGTTTAGCCACCAATTTTGCAGTTTCTCTCATCTCCCCAGGAAAGAGCAGTTGGTCTTTAGATCAATGAGAGCTCTTTTATGGCAGACAAAACAAAGTGACTCTAGCCAACTTGAGCTAAAAAGAAATTTAGTGGAAGGCTAGGAGTTACCACATGAAGTGTGTGCAGCTGCCCCTTGGAGAGAATAAGAACCAGGGTGCCTCTGGGACTTAACATCATTACTGTACTCCAGTTGTTTTCATTCTTTTCCTGACTTTGCTCTAGAGTCAGTTTCCTAACAGAGTACATTCGATGATCATGTGCCCATATCTGTGGGGAGAAGATTTCTTGATTGGCAGTCTTACTAAGGGTGCATATCAAGTAGAATGGAATAGAGGTAGTTTCCTAAAGGAAGATGAGAGGCTGTTACCAGGAGGAGGAGAAGGGATTCAGGACAGATGAAAACAACGTTATATCCATGATAGACTTACGCTGCTGGTACAGATGGTACAGGTGGCTTCAGTATAGGCTCTCCGAACCCACATATCATTGATTATGATAGGGATATGTTAACTATTTTTCAGTGTATATATGTATATGTGTGTGTGTATATATATGTATATGTATATATATATGTATGTGTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATATTTATATATGTATATGTGTGTATATATATATTTATATATATGTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAGATGATCCTCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACTGGCATGAGCCAGCGCTCCTGGCCCATTTTTCAGTATTTCTAAAAAAAATCTAAAGTGGGTCAAACATTTCACCTTAATAGAATGACAGGTTTGTACATCAAGTTTCTTTGCTTTTTCTTGGAATTTTATACTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCACAACCTCCACCTCCAGGTTGAAGCAATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACACCCGGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCCACCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCTTTTTCTTGGAATTTTATCAATCAGTGTCAGAATATTCATTACCTCCTAAAAATAAAGGAGTTCTAGTTGGCTGTTTTGATTCTAGGTGTGGTAAAGTGAAATATTGTTACTTAATAAATGCATTTTGCTAGACACAATCCTTCGGTTCACGAGCTCTGTAGAGAAAAGAGAAATAACCGCCAACCAAGAAAAGATTGGGAGATACTAGAATAAGACCCAGGGGCAGGAAGAAGCCAGTGAGAAGGAGGGCATGTTGAGAGCTCTGAGAGAGAATAAAAGCAGGGGTTGTTGGAGCTAGCTTCTCAAGATGTCCTTGAGGCAAACCAGACCTTTGGGACACTCTGAAAATAAAACTGAAAGTGAAGAGATTGTGGGCCGAATGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACCTGAGATCAGGAGTTCGATACCAGCCTGGCCAACATGGCGAAACGCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCGCTTGAGTCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAATAAATAAAAATAAATAAAAAAGAGATAGTGGCGTGATATCCTTGATTCTATCAGCAACCTATAAAAGTAGAGAGGAGTCTGTGTTTTGATTCAGTCACCTTTAGCATTTTTATTTCCATGAAGTTTCTGCTGGTTTATTTTTCTGTGGGTAAAATATTAATAGGCTGTATGGAGATATTTTTCTTTATATGTACCTTTGTTTAGATTACTCAACTCCACTAATTTATTTAACTAAAAGGGGGCTCTGACATCTAGTGTGTGTTTTTGGCAACTCTTTTCTTACTCTTTTGTTTTTCTTTTCCAGGTATTCAGTACACAATGCAGGCATTAGTTTCTCAGTTAAAAAAGTAAGTTCTTGGTTTATGGGGGATGGTTTTGTTTTATGAAAAGAAAAAAGGGGATTTTTAATAGTTTGCTGGTGGAGATAAGGTTATGATGTTTCAGTCTCAGCCATGAGACAATAAATCCTTGTGTCTTCTGCTGTTTGTTTATCAGCAAGGAGAGACAGTAGCTGATGTTAGGACACTACCCAATGCCTCAACCGTGGACAATATTCGCTCCATCTTTGGAAATGCTGTTAGTCGGTATGTCGATAACCTATATAAAAAAATCTTTTACATTTATTATCTTGGTTTATCATTCCATCACATTATTTTGGAACCTTTCAAGATATTATGTGTGTTAAGAGTTTGCTTTAGTCAAATACACAGGCTTGTTTTATGCTTCAGATTTGTTAATGGAGTTCTTATTTCACGTAATCAACACTTTCTAGGTGTATGTAATCTCCTAGATTCTGTGGCGTGAATCATGTGTTCTTTCAAGGTCTTAGTCTTGAAAATATTTATAGTGTAGTAGAACTATTTTATCCTCCAATGCTCCTTCTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAGTCATTCCAGAGCCCAGTTTCTACTTTGAAGGGCAGATTATTTATTCTTTGAGCTAACCTGACTGAGGAACAATTAGTTTGCTTTTAATTTACTATTTTCTTTTTCTTTTCTTTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCTCAAACTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGATCTCGATCTCCAGACCTC>G |
| Position (GRCh37) | chr3:37045079 GGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCCCACCCAGCCTTATATTTTTTAATGATGCACATTAGCTCAATTACATAAACCAGGGAAATCCAGCTAGGACCTGGTGATTTCTGAGCCTGACCCATGTGACTTTCAATGAACTGAACTTGCCACAGCTGTATTTACTGTCTACTGAGATGCTGTCACACAGACCCCGTCATAGCACAGTTCCTGAGTTACATCTTTACATACTGTAGTATCCTTCTTGTGAAAAAAGATACAGATTCCAAAGGTCTGAGAAACCAATCTTGGTTATAAAGGGGAAAAATGGTCATGGGTTTTTAAAATTTGTTTTGTCTTAATTGCATTTCAAATTTACATTTCTAAATGAATAATTGCTTATATAAAGCAGTTTTGATTAACAATATAAAACACTATCTATTTGGAGTGATTCCTTTACCCATTTCTGAAGGCAAGTTTTAAAAATTACTAGAAGACACTTCATTGAGAATATTATTAAACATGCCTATAGTTCTACCACCTCAACACAATTGCTTATTAACACATTAATGTTTTGGTGTGTTTTGGACTTTTTAATATGTATTTTTCACTTGTTCTAGTAATTATGCTACAGATTGATCATTTCTTTTTCAACATGTCATCAAAGCAAGTGAGCAAAGTGCTCATCGTTGCCACATATTAATACAAAATGGAAGCAGCAGTTCAGATAACCTTTCCCTTTGGTGAGGTGACAGTGGGTGACCCAGCAGTGAGTTTTTCTTTCAGTCTATTTTCTTTTCTTCCTTAGGCTTTGGCCAGCATAAGCCATGTGGCTCATGTTACTATTACAACGAAAACAGCTGATGGAAAGTGTGCATACAGGTATAGTGCTGACTTCTTTTACTCATATATATTCATTCTGAAATGTATTTTTTGCCTAGGTCTCAGAGTAATCCTGTCTCAACACCAGTGTTATCTTTTTTGGCAGAGATCTTGAGTACGTTTTCTTTTCTCCTTATTGATAAATTGATAATCCTCAAGGATGATTATTAGGTGATACTCTTACTTCATGGATTCTTAAAAGATATGATTTAACATATTACAAGTGCCTAGCAAGGTGTCTGTTACACGTAGGTATTTTAAGTAAATGGTAGCTGCTGATGTAATTTCTGCCCCTTTGCCCTTCAGTTGGGGTATTGCTTTGGACCGATTAGAGGGCTGTGGCTGGGATGCTAAAGGTTCATGTTTCCTTAGCTGGCTCCTGAGCCACCAGCTCCCACCACCTGTGTATACCTGTGCTAGTTTGCCTTCCCACAAGTAGCTGCTGGCTATCTGTTATGCTGGTACAGTTTTCAGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGATGCATATCTGTAGTCTTAGCTACTCCGGAGGTGGGAAGATTGCTTGAGCCCAGCAGTTTGAGGCTGCAGTGAGCTGTGATTACACCACTGTACTCCAACCTTAAAATAAATAAATAAATAAGGGAAAATATCTTCAACAAAGGATAGTTCTGTCTGTTTCTCAGTCTTCCTCAACAGATAAATGTGTGAAGTAATGGAAGGTGGAGATTTCAGATTACACAACATTAATGCTAAGGGCGTTTGACTCTGTGTGAATTCTAATTGCCCTAGATCTAGACGGGCTGATACTATTAGAATCCCCTGTCACTAACTGAAGACAGAGTTGTAAGTTAATGCCTTCCTAGATAGCCTAGATTGTGGTATGCTGCTGCATGCTAAAATGGCTCCCCTTCCATAGCAGGATGAAATAGAGTCATTATCTTGGCAACCAGCCCCTGCCAATGTGCTCTCAGTCTGCCTTTCCAGCCCCTTCTCTCTACCTATTCCCAGCTGCCATGTATTCTAAAGCCTCTATGCTTTCATTTTTGTTTTTGCCTTCCTGGATGGTCTTTCCTGCTGTCTCCACCTGAAACTATTCCTCTCTAAAGAACAGATGAATTGCCATCTCTCTGGGATGCTTTTACCCACCCTCACTCCCACCTCAGGCTGAATGGACCCTTCTCTAGATCGCTTAGCATATTGTTCTACAGTTAGGTAAAAAGTCTACCTATCACTAGATCAAGAGCTTTGTTTTTTTTTATTAATTTAATTTTCTTTTTTTTTTTTCTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGCACAATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACCGCGCCGAGCCCCAAGACCTTTCTTTATTACCAGGGCTTCCACAGACCTGACACATGGTAGTTCCTCAATAAATAATTGCAGAATTACTGAAAAATTTTACTGTTAACTTAGGCAGTGGTAAAACCATTGTTTGGTAGCTCAGAACTCAGCAAGTAAATAGCAACATTTGCTGGAAGAACAGATAGTTTTTCAAATCCAATTCAAGGACTGGGTATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGTATCCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGTAGGCGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCTCTCCAGCCTGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGTAATAATAAAATGAATTTGCACTAGTTAATGGAGGTCCCAAGATATCCTCTAAGCAAGATAAATGACTATTGGCTTTTGTGGCATGGCAGCCTGCCACGTCCTTGTCTTTTTTAAGGGCTAGGAGATTCTTTATTGGGATGGCAAAAGTCAATGGCAGGGTAGTTGTCATTGAAAGAAGATTAAGCTTGACCCCAGAAGGCATGGGTTAGAGCCCAGCCTTGTCACTCAATGGTTGTATGTCCAGAGGCAAGTCACTTAACATCCCTTAACCCCAGTTTTCTCATCTGTCAAATGAAGCAAAGAATACTTGCCCTCTTGACTTAAAGGGTGTCTGATGAGACATATGACTGTATCATTAGCTGGGAGAAAGTCCATCGTGCTGCCTATGTATAGTGCCTCAAGTTGGTCTCTTTCCCTTCTATGATTACACAAAGCACTCCGCTGTCATGTTATCCATCCCGCCCCTCCATTCCAAGTCCCATCTAGAGCACATCTTCTTGAAGTCCACTGTAACCTGCCTAATCCTGGATGTGACGAGCCAGGCAGGAGGCAGAAAAGAATGTGTGTTTTGCAATACATGTTAAGAGACATCTTGGGCTGGGCACGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGAGGGCGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCGTGATGGCGCATGCCTGTAATCCCAGCTACTCAGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGTTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACAGGGTCTCAAAAACAAAAACAAACAAACAAAAAAAATCTTTTACCACGGTGACCACCATGTGATTTCCAAGAACTTCAAATGATCTAAGAAATTTTGTGATTATTACTAGTTTGAAAAATACTTTTTTTTTTTTTGAGACAAAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCTCAGCTCACTGCAATCACTACCTCTTGAGTTCAAGCAGTTGTCCTGCCTCAGCCTCTTGAGTACCTGGGATTACAGGCATGCGTCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTACAGACGTGAGCCACTGCACCCAGCCTGAAAAATATCTTTGAATGCCATGTGATACTATACTTGTCAGTTTACATGTGTGTCCCACTAAATCATGTACTCTCCTGAGCAGGATCATGCTTTGTCTTCATATTTTCTGTACAAAGCAAAGACTCTGACACAAAGCTAGCCCCCAGTGCATAGTTGAGAAATCAGTGAATGAATGTGGGAGGCAGGAAAAATGTCCTTTAATTCTTCTGTTAATGCTGTCTTATCCCTGGCCCCAGTCAGTGCTTAGAACTGTGCTGTTGGTAAATATAATTGGATTCACTATCTTAAGACCTCGCTTTTGCCAGGACATCTTGGGTTTTATTTTCAAGTACTTCTATGAATTTACAAGAAAAATCAATCTTCTGTTCAGGTGGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGTACAGTCCAAAATCTGGGAGTGGGTCTCTGAGATTTGTCATCAAAGTAATGTGTTCTAGTGCTCATACATTGAACAGTTGCTGAGCTAGATGGTGAAAAGTAAAACTAGCTTACAGATAGTTTCTGGTCAAGGTTTAGCCACCAATTTTGCAGTTTCTCTCATCTCCCCAGGAAAGAGCAGTTGGTCTTTAGATCAATGAGAGCTCTTTTATGGCAGACAAAACAAAGTGACTCTAGCCAACTTGAGCTAAAAAGAAATTTAGTGGAAGGCTAGGAGTTACCACATGAAGTGTGTGCAGCTGCCCCTTGGAGAGAATAAGAACCAGGGTGCCTCTGGGACTTAACATCATTACTGTACTCCAGTTGTTTTCATTCTTTTCCTGACTTTGCTCTAGAGTCAGTTTCCTAACAGAGTACATTCGATGATCATGTGCCCATATCTGTGGGGAGAAGATTTCTTGATTGGCAGTCTTACTAAGGGTGCATATCAAGTAGAATGGAATAGAGGTAGTTTCCTAAAGGAAGATGAGAGGCTGTTACCAGGAGGAGGAGAAGGGATTCAGGACAGATGAAAACAACGTTATATCCATGATAGACTTACGCTGCTGGTACAGATGGTACAGGTGGCTTCAGTATAGGCTCTCCGAACCCACATATCATTGATTATGATAGGGATATGTTAACTATTTTTCAGTGTATATATGTATATGTGTGTGTGTATATATATGTATATGTATATATATATGTATGTGTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATATTTATATATGTATATGTGTGTATATATATATTTATATATATGTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAGATGATCCTCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACTGGCATGAGCCAGCGCTCCTGGCCCATTTTTCAGTATTTCTAAAAAAAATCTAAAGTGGGTCAAACATTTCACCTTAATAGAATGACAGGTTTGTACATCAAGTTTCTTTGCTTTTTCTTGGAATTTTATACTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCACAACCTCCACCTCCAGGTTGAAGCAATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACACCCGGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCCACCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCTTTTTCTTGGAATTTTATCAATCAGTGTCAGAATATTCATTACCTCCTAAAAATAAAGGAGTTCTAGTTGGCTGTTTTGATTCTAGGTGTGGTAAAGTGAAATATTGTTACTTAATAAATGCATTTTGCTAGACACAATCCTTCGGTTCACGAGCTCTGTAGAGAAAAGAGAAATAACCGCCAACCAAGAAAAGATTGGGAGATACTAGAATAAGACCCAGGGGCAGGAAGAAGCCAGTGAGAAGGAGGGCATGTTGAGAGCTCTGAGAGAGAATAAAAGCAGGGGTTGTTGGAGCTAGCTTCTCAAGATGTCCTTGAGGCAAACCAGACCTTTGGGACACTCTGAAAATAAAACTGAAAGTGAAGAGATTGTGGGCCGAATGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACCTGAGATCAGGAGTTCGATACCAGCCTGGCCAACATGGCGAAACGCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCGCTTGAGTCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAATAAATAAAAATAAATAAAAAAGAGATAGTGGCGTGATATCCTTGATTCTATCAGCAACCTATAAAAGTAGAGAGGAGTCTGTGTTTTGATTCAGTCACCTTTAGCATTTTTATTTCCATGAAGTTTCTGCTGGTTTATTTTTCTGTGGGTAAAATATTAATAGGCTGTATGGAGATATTTTTCTTTATATGTACCTTTGTTTAGATTACTCAACTCCACTAATTTATTTAACTAAAAGGGGGCTCTGACATCTAGTGTGTGTTTTTGGCAACTCTTTTCTTACTCTTTTGTTTTTCTTTTCCAGGTATTCAGTACACAATGCAGGCATTAGTTTCTCAGTTAAAAAAGTAAGTTCTTGGTTTATGGGGGATGGTTTTGTTTTATGAAAAGAAAAAAGGGGATTTTTAATAGTTTGCTGGTGGAGATAAGGTTATGATGTTTCAGTCTCAGCCATGAGACAATAAATCCTTGTGTCTTCTGCTGTTTGTTTATCAGCAAGGAGAGACAGTAGCTGATGTTAGGACACTACCCAATGCCTCAACCGTGGACAATATTCGCTCCATCTTTGGAAATGCTGTTAGTCGGTATGTCGATAACCTATATAAAAAAATCTTTTACATTTATTATCTTGGTTTATCATTCCATCACATTATTTTGGAACCTTTCAAGATATTATGTGTGTTAAGAGTTTGCTTTAGTCAAATACACAGGCTTGTTTTATGCTTCAGATTTGTTAATGGAGTTCTTATTTCACGTAATCAACACTTTCTAGGTGTATGTAATCTCCTAGATTCTGTGGCGTGAATCATGTGTTCTTTCAAGGTCTTAGTCTTGAAAATATTTATAGTGTAGTAGAACTATTTTATCCTCCAATGCTCCTTCTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAGTCATTCCAGAGCCCAGTTTCTACTTTGAAGGGCAGATTATTTATTCTTTGAGCTAACCTGACTGAGGAACAATTAGTTTGCTTTTAATTTACTATTTTCTTTTTCTTTTCTTTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCTCAAACTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGATCTCGATCTCCAGACCTC>G |
| ClinVar Variation ID | VCV000090158 (opens in a new tab) |
| ClinVar Allele ID | 95632 |
| ClinGen Allele Registry ID | CA331002 (opens in a new tab) |
| ClinVar name | NM_000249.4(MLH1):c.307-797_677+1061del |
MLH1 c.307-812_677+1046del in other databases
- ClinVar VCV000090158 (opens in a new tab)
- ClinGen Allele Registry CA331002 (opens in a new tab)
- gnomAD 3-37003588-GGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCCCACCCAGCCTTATATTTTTTAATGATGCACATTAGCTCAATTACATAAACCAGGGAAATCCAGCTAGGACCTGGTGATTTCTGAGCCTGACCCATGTGACTTTCAATGAACTGAACTTGCCACAGCTGTATTTACTGTCTACTGAGATGCTGTCACACAGACCCCGTCATAGCACAGTTCCTGAGTTACATCTTTACATACTGTAGTATCCTTCTTGTGAAAAAAGATACAGATTCCAAAGGTCTGAGAAACCAATCTTGGTTATAAAGGGGAAAAATGGTCATGGGTTTTTAAAATTTGTTTTGTCTTAATTGCATTTCAAATTTACATTTCTAAATGAATAATTGCTTATATAAAGCAGTTTTGATTAACAATATAAAACACTATCTATTTGGAGTGATTCCTTTACCCATTTCTGAAGGCAAGTTTTAAAAATTACTAGAAGACACTTCATTGAGAATATTATTAAACATGCCTATAGTTCTACCACCTCAACACAATTGCTTATTAACACATTAATGTTTTGGTGTGTTTTGGACTTTTTAATATGTATTTTTCACTTGTTCTAGTAATTATGCTACAGATTGATCATTTCTTTTTCAACATGTCATCAAAGCAAGTGAGCAAAGTGCTCATCGTTGCCACATATTAATACAAAATGGAAGCAGCAGTTCAGATAACCTTTCCCTTTGGTGAGGTGACAGTGGGTGACCCAGCAGTGAGTTTTTCTTTCAGTCTATTTTCTTTTCTTCCTTAGGCTTTGGCCAGCATAAGCCATGTGGCTCATGTTACTATTACAACGAAAACAGCTGATGGAAAGTGTGCATACAGGTATAGTGCTGACTTCTTTTACTCATATATATTCATTCTGAAATGTATTTTTTGCCTAGGTCTCAGAGTAATCCTGTCTCAACACCAGTGTTATCTTTTTTGGCAGAGATCTTGAGTACGTTTTCTTTTCTCCTTATTGATAAATTGATAATCCTCAAGGATGATTATTAGGTGATACTCTTACTTCATGGATTCTTAAAAGATATGATTTAACATATTACAAGTGCCTAGCAAGGTGTCTGTTACACGTAGGTATTTTAAGTAAATGGTAGCTGCTGATGTAATTTCTGCCCCTTTGCCCTTCAGTTGGGGTATTGCTTTGGACCGATTAGAGGGCTGTGGCTGGGATGCTAAAGGTTCATGTTTCCTTAGCTGGCTCCTGAGCCACCAGCTCCCACCACCTGTGTATACCTGTGCTAGTTTGCCTTCCCACAAGTAGCTGCTGGCTATCTGTTATGCTGGTACAGTTTTCAGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGATGCATATCTGTAGTCTTAGCTACTCCGGAGGTGGGAAGATTGCTTGAGCCCAGCAGTTTGAGGCTGCAGTGAGCTGTGATTACACCACTGTACTCCAACCTTAAAATAAATAAATAAATAAGGGAAAATATCTTCAACAAAGGATAGTTCTGTCTGTTTCTCAGTCTTCCTCAACAGATAAATGTGTGAAGTAATGGAAGGTGGAGATTTCAGATTACACAACATTAATGCTAAGGGCGTTTGACTCTGTGTGAATTCTAATTGCCCTAGATCTAGACGGGCTGATACTATTAGAATCCCCTGTCACTAACTGAAGACAGAGTTGTAAGTTAATGCCTTCCTAGATAGCCTAGATTGTGGTATGCTGCTGCATGCTAAAATGGCTCCCCTTCCATAGCAGGATGAAATAGAGTCATTATCTTGGCAACCAGCCCCTGCCAATGTGCTCTCAGTCTGCCTTTCCAGCCCCTTCTCTCTACCTATTCCCAGCTGCCATGTATTCTAAAGCCTCTATGCTTTCATTTTTGTTTTTGCCTTCCTGGATGGTCTTTCCTGCTGTCTCCACCTGAAACTATTCCTCTCTAAAGAACAGATGAATTGCCATCTCTCTGGGATGCTTTTACCCACCCTCACTCCCACCTCAGGCTGAATGGACCCTTCTCTAGATCGCTTAGCATATTGTTCTACAGTTAGGTAAAAAGTCTACCTATCACTAGATCAAGAGCTTTGTTTTTTTTTATTAATTTAATTTTCTTTTTTTTTTTTCTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGCACAATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACCGCGCCGAGCCCCAAGACCTTTCTTTATTACCAGGGCTTCCACAGACCTGACACATGGTAGTTCCTCAATAAATAATTGCAGAATTACTGAAAAATTTTACTGTTAACTTAGGCAGTGGTAAAACCATTGTTTGGTAGCTCAGAACTCAGCAAGTAAATAGCAACATTTGCTGGAAGAACAGATAGTTTTTCAAATCCAATTCAAGGACTGGGTATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGTATCCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGTAGGCGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCTCTCCAGCCTGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGTAATAATAAAATGAATTTGCACTAGTTAATGGAGGTCCCAAGATATCCTCTAAGCAAGATAAATGACTATTGGCTTTTGTGGCATGGCAGCCTGCCACGTCCTTGTCTTTTTTAAGGGCTAGGAGATTCTTTATTGGGATGGCAAAAGTCAATGGCAGGGTAGTTGTCATTGAAAGAAGATTAAGCTTGACCCCAGAAGGCATGGGTTAGAGCCCAGCCTTGTCACTCAATGGTTGTATGTCCAGAGGCAAGTCACTTAACATCCCTTAACCCCAGTTTTCTCATCTGTCAAATGAAGCAAAGAATACTTGCCCTCTTGACTTAAAGGGTGTCTGATGAGACATATGACTGTATCATTAGCTGGGAGAAAGTCCATCGTGCTGCCTATGTATAGTGCCTCAAGTTGGTCTCTTTCCCTTCTATGATTACACAAAGCACTCCGCTGTCATGTTATCCATCCCGCCCCTCCATTCCAAGTCCCATCTAGAGCACATCTTCTTGAAGTCCACTGTAACCTGCCTAATCCTGGATGTGACGAGCCAGGCAGGAGGCAGAAAAGAATGTGTGTTTTGCAATACATGTTAAGAGACATCTTGGGCTGGGCACGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGAGGGCGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCGTGATGGCGCATGCCTGTAATCCCAGCTACTCAGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGTTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACAGGGTCTCAAAAACAAAAACAAACAAACAAAAAAAATCTTTTACCACGGTGACCACCATGTGATTTCCAAGAACTTCAAATGATCTAAGAAATTTTGTGATTATTACTAGTTTGAAAAATACTTTTTTTTTTTTTGAGACAAAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCTCAGCTCACTGCAATCACTACCTCTTGAGTTCAAGCAGTTGTCCTGCCTCAGCCTCTTGAGTACCTGGGATTACAGGCATGCGTCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTACAGACGTGAGCCACTGCACCCAGCCTGAAAAATATCTTTGAATGCCATGTGATACTATACTTGTCAGTTTACATGTGTGTCCCACTAAATCATGTACTCTCCTGAGCAGGATCATGCTTTGTCTTCATATTTTCTGTACAAAGCAAAGACTCTGACACAAAGCTAGCCCCCAGTGCATAGTTGAGAAATCAGTGAATGAATGTGGGAGGCAGGAAAAATGTCCTTTAATTCTTCTGTTAATGCTGTCTTATCCCTGGCCCCAGTCAGTGCTTAGAACTGTGCTGTTGGTAAATATAATTGGATTCACTATCTTAAGACCTCGCTTTTGCCAGGACATCTTGGGTTTTATTTTCAAGTACTTCTATGAATTTACAAGAAAAATCAATCTTCTGTTCAGGTGGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGTACAGTCCAAAATCTGGGAGTGGGTCTCTGAGATTTGTCATCAAAGTAATGTGTTCTAGTGCTCATACATTGAACAGTTGCTGAGCTAGATGGTGAAAAGTAAAACTAGCTTACAGATAGTTTCTGGTCAAGGTTTAGCCACCAATTTTGCAGTTTCTCTCATCTCCCCAGGAAAGAGCAGTTGGTCTTTAGATCAATGAGAGCTCTTTTATGGCAGACAAAACAAAGTGACTCTAGCCAACTTGAGCTAAAAAGAAATTTAGTGGAAGGCTAGGAGTTACCACATGAAGTGTGTGCAGCTGCCCCTTGGAGAGAATAAGAACCAGGGTGCCTCTGGGACTTAACATCATTACTGTACTCCAGTTGTTTTCATTCTTTTCCTGACTTTGCTCTAGAGTCAGTTTCCTAACAGAGTACATTCGATGATCATGTGCCCATATCTGTGGGGAGAAGATTTCTTGATTGGCAGTCTTACTAAGGGTGCATATCAAGTAGAATGGAATAGAGGTAGTTTCCTAAAGGAAGATGAGAGGCTGTTACCAGGAGGAGGAGAAGGGATTCAGGACAGATGAAAACAACGTTATATCCATGATAGACTTACGCTGCTGGTACAGATGGTACAGGTGGCTTCAGTATAGGCTCTCCGAACCCACATATCATTGATTATGATAGGGATATGTTAACTATTTTTCAGTGTATATATGTATATGTGTGTGTGTATATATATGTATATGTATATATATATGTATGTGTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATATTTATATATGTATATGTGTGTATATATATATTTATATATATGTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAGATGATCCTCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACTGGCATGAGCCAGCGCTCCTGGCCCATTTTTCAGTATTTCTAAAAAAAATCTAAAGTGGGTCAAACATTTCACCTTAATAGAATGACAGGTTTGTACATCAAGTTTCTTTGCTTTTTCTTGGAATTTTATACTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCACAACCTCCACCTCCAGGTTGAAGCAATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACACCCGGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCCACCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCTTTTTCTTGGAATTTTATCAATCAGTGTCAGAATATTCATTACCTCCTAAAAATAAAGGAGTTCTAGTTGGCTGTTTTGATTCTAGGTGTGGTAAAGTGAAATATTGTTACTTAATAAATGCATTTTGCTAGACACAATCCTTCGGTTCACGAGCTCTGTAGAGAAAAGAGAAATAACCGCCAACCAAGAAAAGATTGGGAGATACTAGAATAAGACCCAGGGGCAGGAAGAAGCCAGTGAGAAGGAGGGCATGTTGAGAGCTCTGAGAGAGAATAAAAGCAGGGGTTGTTGGAGCTAGCTTCTCAAGATGTCCTTGAGGCAAACCAGACCTTTGGGACACTCTGAAAATAAAACTGAAAGTGAAGAGATTGTGGGCCGAATGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACCTGAGATCAGGAGTTCGATACCAGCCTGGCCAACATGGCGAAACGCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCGCTTGAGTCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAATAAATAAAAATAAATAAAAAAGAGATAGTGGCGTGATATCCTTGATTCTATCAGCAACCTATAAAAGTAGAGAGGAGTCTGTGTTTTGATTCAGTCACCTTTAGCATTTTTATTTCCATGAAGTTTCTGCTGGTTTATTTTTCTGTGGGTAAAATATTAATAGGCTGTATGGAGATATTTTTCTTTATATGTACCTTTGTTTAGATTACTCAACTCCACTAATTTATTTAACTAAAAGGGGGCTCTGACATCTAGTGTGTGTTTTTGGCAACTCTTTTCTTACTCTTTTGTTTTTCTTTTCCAGGTATTCAGTACACAATGCAGGCATTAGTTTCTCAGTTAAAAAAGTAAGTTCTTGGTTTATGGGGGATGGTTTTGTTTTATGAAAAGAAAAAAGGGGATTTTTAATAGTTTGCTGGTGGAGATAAGGTTATGATGTTTCAGTCTCAGCCATGAGACAATAAATCCTTGTGTCTTCTGCTGTTTGTTTATCAGCAAGGAGAGACAGTAGCTGATGTTAGGACACTACCCAATGCCTCAACCGTGGACAATATTCGCTCCATCTTTGGAAATGCTGTTAGTCGGTATGTCGATAACCTATATAAAAAAATCTTTTACATTTATTATCTTGGTTTATCATTCCATCACATTATTTTGGAACCTTTCAAGATATTATGTGTGTTAAGAGTTTGCTTTAGTCAAATACACAGGCTTGTTTTATGCTTCAGATTTGTTAATGGAGTTCTTATTTCACGTAATCAACACTTTCTAGGTGTATGTAATCTCCTAGATTCTGTGGCGTGAATCATGTGTTCTTTCAAGGTCTTAGTCTTGAAAATATTTATAGTGTAGTAGAACTATTTTATCCTCCAATGCTCCTTCTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAGTCATTCCAGAGCCCAGTTTCTACTTTGAAGGGCAGATTATTTATTCTTTGAGCTAACCTGACTGAGGAACAATTAGTTTGCTTTTAATTTACTATTTTCTTTTTCTTTTCTTTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCTCAAACTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGATCTCGATCTCCAGACCTC-G (opens in a new tab)
- Ensembl 3-37003588-GGTGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCCCACCCAGCCTTATATTTTTTAATGATGCACATTAGCTCAATTACATAAACCAGGGAAATCCAGCTAGGACCTGGTGATTTCTGAGCCTGACCCATGTGACTTTCAATGAACTGAACTTGCCACAGCTGTATTTACTGTCTACTGAGATGCTGTCACACAGACCCCGTCATAGCACAGTTCCTGAGTTACATCTTTACATACTGTAGTATCCTTCTTGTGAAAAAAGATACAGATTCCAAAGGTCTGAGAAACCAATCTTGGTTATAAAGGGGAAAAATGGTCATGGGTTTTTAAAATTTGTTTTGTCTTAATTGCATTTCAAATTTACATTTCTAAATGAATAATTGCTTATATAAAGCAGTTTTGATTAACAATATAAAACACTATCTATTTGGAGTGATTCCTTTACCCATTTCTGAAGGCAAGTTTTAAAAATTACTAGAAGACACTTCATTGAGAATATTATTAAACATGCCTATAGTTCTACCACCTCAACACAATTGCTTATTAACACATTAATGTTTTGGTGTGTTTTGGACTTTTTAATATGTATTTTTCACTTGTTCTAGTAATTATGCTACAGATTGATCATTTCTTTTTCAACATGTCATCAAAGCAAGTGAGCAAAGTGCTCATCGTTGCCACATATTAATACAAAATGGAAGCAGCAGTTCAGATAACCTTTCCCTTTGGTGAGGTGACAGTGGGTGACCCAGCAGTGAGTTTTTCTTTCAGTCTATTTTCTTTTCTTCCTTAGGCTTTGGCCAGCATAAGCCATGTGGCTCATGTTACTATTACAACGAAAACAGCTGATGGAAAGTGTGCATACAGGTATAGTGCTGACTTCTTTTACTCATATATATTCATTCTGAAATGTATTTTTTGCCTAGGTCTCAGAGTAATCCTGTCTCAACACCAGTGTTATCTTTTTTGGCAGAGATCTTGAGTACGTTTTCTTTTCTCCTTATTGATAAATTGATAATCCTCAAGGATGATTATTAGGTGATACTCTTACTTCATGGATTCTTAAAAGATATGATTTAACATATTACAAGTGCCTAGCAAGGTGTCTGTTACACGTAGGTATTTTAAGTAAATGGTAGCTGCTGATGTAATTTCTGCCCCTTTGCCCTTCAGTTGGGGTATTGCTTTGGACCGATTAGAGGGCTGTGGCTGGGATGCTAAAGGTTCATGTTTCCTTAGCTGGCTCCTGAGCCACCAGCTCCCACCACCTGTGTATACCTGTGCTAGTTTGCCTTCCCACAAGTAGCTGCTGGCTATCTGTTATGCTGGTACAGTTTTCAGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTGGGCATGGTGATGCATATCTGTAGTCTTAGCTACTCCGGAGGTGGGAAGATTGCTTGAGCCCAGCAGTTTGAGGCTGCAGTGAGCTGTGATTACACCACTGTACTCCAACCTTAAAATAAATAAATAAATAAGGGAAAATATCTTCAACAAAGGATAGTTCTGTCTGTTTCTCAGTCTTCCTCAACAGATAAATGTGTGAAGTAATGGAAGGTGGAGATTTCAGATTACACAACATTAATGCTAAGGGCGTTTGACTCTGTGTGAATTCTAATTGCCCTAGATCTAGACGGGCTGATACTATTAGAATCCCCTGTCACTAACTGAAGACAGAGTTGTAAGTTAATGCCTTCCTAGATAGCCTAGATTGTGGTATGCTGCTGCATGCTAAAATGGCTCCCCTTCCATAGCAGGATGAAATAGAGTCATTATCTTGGCAACCAGCCCCTGCCAATGTGCTCTCAGTCTGCCTTTCCAGCCCCTTCTCTCTACCTATTCCCAGCTGCCATGTATTCTAAAGCCTCTATGCTTTCATTTTTGTTTTTGCCTTCCTGGATGGTCTTTCCTGCTGTCTCCACCTGAAACTATTCCTCTCTAAAGAACAGATGAATTGCCATCTCTCTGGGATGCTTTTACCCACCCTCACTCCCACCTCAGGCTGAATGGACCCTTCTCTAGATCGCTTAGCATATTGTTCTACAGTTAGGTAAAAAGTCTACCTATCACTAGATCAAGAGCTTTGTTTTTTTTTATTAATTTAATTTTCTTTTTTTTTTTTCTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGCACAATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACCGCGCCGAGCCCCAAGACCTTTCTTTATTACCAGGGCTTCCACAGACCTGACACATGGTAGTTCCTCAATAAATAATTGCAGAATTACTGAAAAATTTTACTGTTAACTTAGGCAGTGGTAAAACCATTGTTTGGTAGCTCAGAACTCAGCAAGTAAATAGCAACATTTGCTGGAAGAACAGATAGTTTTTCAAATCCAATTCAAGGACTGGGTATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGTATCCAGGAGTTCGAGACTAGCCTGACCAACATGGTGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGTAGGCGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCTCTCCAGCCTGGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGTAATAATAAAATGAATTTGCACTAGTTAATGGAGGTCCCAAGATATCCTCTAAGCAAGATAAATGACTATTGGCTTTTGTGGCATGGCAGCCTGCCACGTCCTTGTCTTTTTTAAGGGCTAGGAGATTCTTTATTGGGATGGCAAAAGTCAATGGCAGGGTAGTTGTCATTGAAAGAAGATTAAGCTTGACCCCAGAAGGCATGGGTTAGAGCCCAGCCTTGTCACTCAATGGTTGTATGTCCAGAGGCAAGTCACTTAACATCCCTTAACCCCAGTTTTCTCATCTGTCAAATGAAGCAAAGAATACTTGCCCTCTTGACTTAAAGGGTGTCTGATGAGACATATGACTGTATCATTAGCTGGGAGAAAGTCCATCGTGCTGCCTATGTATAGTGCCTCAAGTTGGTCTCTTTCCCTTCTATGATTACACAAAGCACTCCGCTGTCATGTTATCCATCCCGCCCCTCCATTCCAAGTCCCATCTAGAGCACATCTTCTTGAAGTCCACTGTAACCTGCCTAATCCTGGATGTGACGAGCCAGGCAGGAGGCAGAAAAGAATGTGTGTTTTGCAATACATGTTAAGAGACATCTTGGGCTGGGCACGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGAGGGCGGATCATCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCGTGATGGCGCATGCCTGTAATCCCAGCTACTCAGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGTTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACAGGGTCTCAAAAACAAAAACAAACAAACAAAAAAAATCTTTTACCACGGTGACCACCATGTGATTTCCAAGAACTTCAAATGATCTAAGAAATTTTGTGATTATTACTAGTTTGAAAAATACTTTTTTTTTTTTTGAGACAAAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCTCAGCTCACTGCAATCACTACCTCTTGAGTTCAAGCAGTTGTCCTGCCTCAGCCTCTTGAGTACCTGGGATTACAGGCATGCGTCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTACAGACGTGAGCCACTGCACCCAGCCTGAAAAATATCTTTGAATGCCATGTGATACTATACTTGTCAGTTTACATGTGTGTCCCACTAAATCATGTACTCTCCTGAGCAGGATCATGCTTTGTCTTCATATTTTCTGTACAAAGCAAAGACTCTGACACAAAGCTAGCCCCCAGTGCATAGTTGAGAAATCAGTGAATGAATGTGGGAGGCAGGAAAAATGTCCTTTAATTCTTCTGTTAATGCTGTCTTATCCCTGGCCCCAGTCAGTGCTTAGAACTGTGCTGTTGGTAAATATAATTGGATTCACTATCTTAAGACCTCGCTTTTGCCAGGACATCTTGGGTTTTATTTTCAAGTACTTCTATGAATTTACAAGAAAAATCAATCTTCTGTTCAGGTGGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGTACAGTCCAAAATCTGGGAGTGGGTCTCTGAGATTTGTCATCAAAGTAATGTGTTCTAGTGCTCATACATTGAACAGTTGCTGAGCTAGATGGTGAAAAGTAAAACTAGCTTACAGATAGTTTCTGGTCAAGGTTTAGCCACCAATTTTGCAGTTTCTCTCATCTCCCCAGGAAAGAGCAGTTGGTCTTTAGATCAATGAGAGCTCTTTTATGGCAGACAAAACAAAGTGACTCTAGCCAACTTGAGCTAAAAAGAAATTTAGTGGAAGGCTAGGAGTTACCACATGAAGTGTGTGCAGCTGCCCCTTGGAGAGAATAAGAACCAGGGTGCCTCTGGGACTTAACATCATTACTGTACTCCAGTTGTTTTCATTCTTTTCCTGACTTTGCTCTAGAGTCAGTTTCCTAACAGAGTACATTCGATGATCATGTGCCCATATCTGTGGGGAGAAGATTTCTTGATTGGCAGTCTTACTAAGGGTGCATATCAAGTAGAATGGAATAGAGGTAGTTTCCTAAAGGAAGATGAGAGGCTGTTACCAGGAGGAGGAGAAGGGATTCAGGACAGATGAAAACAACGTTATATCCATGATAGACTTACGCTGCTGGTACAGATGGTACAGGTGGCTTCAGTATAGGCTCTCCGAACCCACATATCATTGATTATGATAGGGATATGTTAACTATTTTTCAGTGTATATATGTATATGTGTGTGTGTATATATATGTATATGTATATATATATGTATGTGTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATTTATATATGTATATGTATATATATTTATATATGTATATGTGTGTATATATATATTTATATATATGTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAGATGATCCTCCCGCCTTGGCCTCCCAGAGTGCTGGGATTACTGGCATGAGCCAGCGCTCCTGGCCCATTTTTCAGTATTTCTAAAAAAAATCTAAAGTGGGTCAAACATTTCACCTTAATAGAATGACAGGTTTGTACATCAAGTTTCTTTGCTTTTTCTTGGAATTTTATACTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGTGTTACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACCACAACCTCCACCTCCAGGTTGAAGCAATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACCACACCCGGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCATCTCGGCCCACCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCTTTTTCTTGGAATTTTATCAATCAGTGTCAGAATATTCATTACCTCCTAAAAATAAAGGAGTTCTAGTTGGCTGTTTTGATTCTAGGTGTGGTAAAGTGAAATATTGTTACTTAATAAATGCATTTTGCTAGACACAATCCTTCGGTTCACGAGCTCTGTAGAGAAAAGAGAAATAACCGCCAACCAAGAAAAGATTGGGAGATACTAGAATAAGACCCAGGGGCAGGAAGAAGCCAGTGAGAAGGAGGGCATGTTGAGAGCTCTGAGAGAGAATAAAAGCAGGGGTTGTTGGAGCTAGCTTCTCAAGATGTCCTTGAGGCAAACCAGACCTTTGGGACACTCTGAAAATAAAACTGAAAGTGAAGAGATTGTGGGCCGAATGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGTGGATCACCTGAGATCAGGAGTTCGATACCAGCCTGGCCAACATGGCGAAACGCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCGCTTGAGTCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAATAAATAAAAATAAATAAAAAAGAGATAGTGGCGTGATATCCTTGATTCTATCAGCAACCTATAAAAGTAGAGAGGAGTCTGTGTTTTGATTCAGTCACCTTTAGCATTTTTATTTCCATGAAGTTTCTGCTGGTTTATTTTTCTGTGGGTAAAATATTAATAGGCTGTATGGAGATATTTTTCTTTATATGTACCTTTGTTTAGATTACTCAACTCCACTAATTTATTTAACTAAAAGGGGGCTCTGACATCTAGTGTGTGTTTTTGGCAACTCTTTTCTTACTCTTTTGTTTTTCTTTTCCAGGTATTCAGTACACAATGCAGGCATTAGTTTCTCAGTTAAAAAAGTAAGTTCTTGGTTTATGGGGGATGGTTTTGTTTTATGAAAAGAAAAAAGGGGATTTTTAATAGTTTGCTGGTGGAGATAAGGTTATGATGTTTCAGTCTCAGCCATGAGACAATAAATCCTTGTGTCTTCTGCTGTTTGTTTATCAGCAAGGAGAGACAGTAGCTGATGTTAGGACACTACCCAATGCCTCAACCGTGGACAATATTCGCTCCATCTTTGGAAATGCTGTTAGTCGGTATGTCGATAACCTATATAAAAAAATCTTTTACATTTATTATCTTGGTTTATCATTCCATCACATTATTTTGGAACCTTTCAAGATATTATGTGTGTTAAGAGTTTGCTTTAGTCAAATACACAGGCTTGTTTTATGCTTCAGATTTGTTAATGGAGTTCTTATTTCACGTAATCAACACTTTCTAGGTGTATGTAATCTCCTAGATTCTGTGGCGTGAATCATGTGTTCTTTCAAGGTCTTAGTCTTGAAAATATTTATAGTGTAGTAGAACTATTTTATCCTCCAATGCTCCTTCTTTTCCTTGTATTTCCATTATCATCACTTTAGGATTTCACTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGCAGTCATTCCAGAGCCCAGTTTCTACTTTGAAGGGCAGATTATTTATTCTTTGAGCTAACCTGACTGAGGAACAATTAGTTTGCTTTTAATTTACTATTTTCTTTTTCTTTTCTTTTCTTTTTTGAGACAGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCTCAAACTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGTCACCACACCCAGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCATCGTGTTAGCCAGGATGATCTCGATCTCCAGACCTC-G 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Reports that look at this variant (1)
These Genome Test condition reports include c.307-812_677+1046del among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Lynch Syndrome | Lynch Syndrome | Autosomal dominant |
Other variants in MLH1
- A21EPathogenic3 stars out of 4
- A21Rfs*15Pathogenic3 stars out of 4
- A21VPathogenic3 stars out of 4
- A29GPathogenic3 stars out of 4
- A29Lfs*7Pathogenic3 stars out of 4
- A111VLikely pathogenic3 stars out of 4
- A125Ifs*15Pathogenic3 stars out of 4
- A128PPathogenic3 stars out of 4
- A128Qfs*8Pathogenic3 stars out of 4
- A128Sfs*6Pathogenic3 stars out of 4
Limitations
This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant.
Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports.
Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements.
If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor.
Sources & credits
- Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information.
- Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0.
- Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16).
- Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54).
- Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
- Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16).
- Difficult regions from the Genome in a Bottle Consortium (release v3.6).
- Transcripts from MANE (release v1.5), NCBI and EMBL-EBI.
- Predicted consequences from mehari (release 0.11.0), with transcript models from cdot.
- Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026.
Cite this page
Dante Labs. (16 October 2026). MLH1 c.307-812_677+1046del (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/mlh1/variants/c-307-812to677plus1046del
Dante Labs. MLH1 c.307-812_677+1046del [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mlh1/variants/c-307-812to677plus1046del
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