Variants
TRDN variants
Predicted effect: Frameshift. 3 of 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.
| Variant | HGVS c. | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| D18Afs*14 | c.53_56del | 123,571,098 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E178Kfs*45 | c.531del | 123,516,159 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V162Lfs*13 | c.483del | 123,530,506 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |