Variants
TRDN variants
The 8 TRDN variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.22+29A>G | Intron 1 | 123,636,725 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.391+1G>A | Intron 3 | 123,548,453 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.550+1_550+2insA | Intron 6 | 123,516,139 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| D18Afs*14 | c.53_56del | Exon 2 | 123,571,098 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E168X | c.502G>T | Exon 6 | 123,516,189 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E178Kfs*45 | c.531del | Exon 6 | 123,516,159 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q205X | c.613C>T | Exon 8 | 123,503,899 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V162Lfs*13 | c.483del | Exon 5 | 123,530,506 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |