Y35* (p.Tyr35Ter) variant of COL7A1 (Collagen alpha-1(VII) chain)
Y35* (p.Tyr35Ter) in COL7A1 (Collagen alpha-1(VII) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and population frequency data.
Y35* (p.Tyr35Ter) variant details
- p.Tyr35Ter
- rs751325519
- ClinGen CA2381644
- ClinVar RCV001384196
- ExAC rs751325519
- Pathogenic
- Stop Gained
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)