G2132D (p.Gly2132Asp) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2132D (p.Gly2132Asp) 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 not provided; Epidermolysis bullosa dystrophica; Nonsyndromic congenital nail di. The record also includes variant effect predictions, population frequency data, and published literature.
G2132D (p.Gly2132Asp) variant details
- p.Gly2132Asp
- rs755669902
- ClinGen CA2379059
- NCI-TCGA Cosmic COSV1000
- ClinVar RCV001898978
- Pathogenic/Likely pathogenic
- not provided; Epidermolysis bullosa dystrophica; Nonsyndromic congenital nail di
- Missense
- CADD 23.60
- PolyPhen-2 0.57
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Epidermolysis bullosa dystrophica; Nonsyndromic co)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Cited in: Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test… (PMID 10504458)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)