G2351R (p.Gly2351Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2351R (p.Gly2351Arg) 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; not provided; Recessive dystrophic epidermoly. The record also includes variant effect predictions, population frequency data, and published literature.
G2351R (p.Gly2351Arg) variant details
- p.Gly2351Arg
- rs1800013
- TOPMed rs1800013
- gnomAD rs1800013
- ClinGen CA500032
- Pathogenic
- Epidermolysis bullosa dystrophica; not provided; Recessive dystrophic epidermoly
- Missense
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Epidermolysis bullosa dystrophica; not provided; Recessive dystr)
- EBI: Pathogenic (in a patient with dystrophic epidermolysis bullosa)
- UniProt: Pathogenic (in a patient with dystrophic epidermolysis bullosa)
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)