G2680S (p.Gly2680Ser) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2680S (p.Gly2680Ser) 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 Epidermolysis bullosa dystrophica; Recessive dystrophic epidermolysis bullosa; n. The record also includes variant effect predictions, population frequency data, and published literature.
G2680S (p.Gly2680Ser) variant details
- p.Gly2680Ser
- rs370744140
- ClinGen CA2378194
- ClinVar RCV001389450
- ClinVar RCV002051943
- Pathogenic
- Epidermolysis bullosa dystrophica; Recessive dystrophic epidermolysis bullosa; n
- Missense
- CADD 25.60
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Pathogenic (Epidermolysis bullosa dystrophica; Recessive dystrophic epidermo)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 7.6e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)