G1854R (p.Gly1854Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1854R (p.Gly1854Arg) 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; Nonsyndromic congenital nail disorder 8; Pret. The record also includes variant effect predictions, population frequency data, and published literature.
G1854R (p.Gly1854Arg) variant details
- p.Gly1854Arg
- rs146234310
- ClinGen CA2379435
- ClinVar RCV002052063
- ClinVar RCV002508336
- Pathogenic/Likely pathogenic
- Epidermolysis bullosa dystrophica; Nonsyndromic congenital nail disorder 8; Pret
- Missense
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Epidermolysis bullosa dystrophica; Nonsyndromic congenital nail)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)