G2713D (p.Gly2713Asp) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2713D (p.Gly2713Asp) 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 Recessive dystrophic epidermolysis bullosa; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
G2713D (p.Gly2713Asp) variant details
- p.Gly2713Asp
- rs369591910
- ClinGen CA2378140
- ClinVar RCV001528927
- ClinVar RCV005208166
- Pathogenic
- Recessive dystrophic epidermolysis bullosa; not provided
- Missense
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Recessive dystrophic epidermolysis bullosa; not provided)
- EBI: Pathogenic (in DDEB)
- UniProt: Pathogenic (in DDEB)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Cited in: Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis… (PMID 9856843)
- Cited in: Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa. (PMID 10084325)