Gene
TTN-AS1
TTN antisense RNA 1
- HGNC 44124↗(opens in a new tab)
- Ensembl gene ENSG00000237298↗(opens in a new tab)
- NCBI Gene 100506866↗(opens in a new tab)
Summary
- Cytogenetic location
- 2q31.2
- Locus type
- Long non-coding RNA (lncRNA)
This page as data
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Sequencing TTN-AS1
12
positions in TTN-AS1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
ClinVar pathogenic variants (12)
The TTN-AS1 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.
- Pathogenic 5
- Likely pathogenic 7
| Variant | Conditions | ClinVar classification | Review status |
|---|---|---|---|
| NM_001267550.2(TTN):c.106070_106071del (p.Tyr35357fs) (opens in a new tab) | autosomal recessive limb-girdle muscular dystrophy type 2J | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001267550.2(TTN):c.96901del (p.Arg32301fs) (opens in a new tab) | autosomal recessive limb-girdle muscular dystrophy type 2J and 1 other | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001267550.2(TTN):c.85464_88084del2621 (p.Glu28489fs) (opens in a new tab) | dilated cardiomyopathy 1G | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001267550.2(TTN):c.80623_85481del (p.Asp26875fs) (opens in a new tab) | dilated cardiomyopathy 1G | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001267550.2(TTN):c.53743C>T (p.Arg17915Ter) (opens in a new tab) | autosomal recessive limb-girdle muscular dystrophy type 2J and 2 others | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001267550.2(TTN):c.106928_106932del (p.Val35643fs) (opens in a new tab) | dilated cardiomyopathy 1G | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001267550.2(TTN):c.105854dup (p.Pro35286fs) (opens in a new tab) | early-onset myopathy with fatal cardiomyopathy | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001267550.2(TTN):c.89053A>T (p.Lys29685Ter) (opens in a new tab) | autosomal recessive limb-girdle muscular dystrophy type 2J and 2 others | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001267550.2(TTN):c.87077del (p.Pro29026fs) (opens in a new tab) | dilated cardiomyopathy 1G | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001267550.2(TTN):c.49564del (p.Arg16522fs) (opens in a new tab) | familial isolated dilated cardiomyopathy | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001267550.2(TTN):c.46305-2A>G (opens in a new tab) | dilated cardiomyopathy 1G | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_001267550.2(TTN):c.11444del (p.Lys3815fs) (opens in a new tab) | dilated cardiomyopathy | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
External links
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- Data release 2026.10.19-9814e911.
Cite this page
Dante Labs. (n.d.). TTN-AS1 gene: TTN antisense RNA 1. Retrieved 20 October 2026, from https://dantelabs.com/genes/ttn-as1
Dante Labs. TTN-AS1 gene: TTN antisense RNA 1 [Internet]. [cited 20 October 2026]. Available from: https://dantelabs.com/genes/ttn-as1
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