G1284S (p.Gly1284Ser) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1284S (p.Gly1284Ser) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Epidermolysis bullosa dystrophica; not provided; Nonsyndromic congenital nail di. The record also includes variant effect predictions, population frequency data, and published literature.
G1284S (p.Gly1284Ser) variant details
- p.Gly1284Ser
- rs764353299
- ClinGen CA2380357
- ClinVar RCV001916048
- ClinVar RCV005038493
- Pathogenic/Likely pathogenic
- Epidermolysis bullosa dystrophica; not provided; Nonsyndromic congenital nail di
- Missense
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.15
- ClinVar: Pathogenic/Likely pathogenic (Epidermolysis bullosa dystrophica; not provided; Nonsyndromic co)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)