G2689R (p.Gly2689Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2689R (p.Gly2689Arg) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; COL7A1-related disorder; Epidermolysis bullosa dystrophica. The record also includes variant effect predictions, population frequency data, and published literature.
G2689R (p.Gly2689Arg) variant details
- p.Gly2689Arg
- rs748940147
- ClinGen CA2378173
- NCI-TCGA Cosmic COSV5647
- ClinVar RCV001529857
- Pathogenic
- not provided; COL7A1-related disorder; Epidermolysis bullosa dystrophica
- Missense
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; COL7A1-related disorder; Epidermolysis bullosa dys)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)