Y112* (p.Tyr112Ter) variant of COL7A1 (Collagen alpha-1(VII) chain)
Y112* (p.Tyr112Ter) 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, population frequency data, and published literature.
Y112* (p.Tyr112Ter) variant details
- p.Tyr112Ter
- rs1256976418
- ClinGen CA907759857
- ClinVar RCV002277053
- ClinVar RCV003728045
- Pathogenic
- Stop Gained
- CADD 30.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)