G2674R (p.Gly2674Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2674R (p.Gly2674Arg) 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 not provided; Dominant dystrophic epidermolysis bullosa with absence of skin; Tr. The record also includes variant effect predictions, population frequency data, and published literature.
G2674R (p.Gly2674Arg) variant details
- p.Gly2674Arg
- rs2107635006
- ClinGen CA352641070
- ClinVar RCV001377120
- ClinVar RCV005023119
- Pathogenic
- not provided; Dominant dystrophic epidermolysis bullosa with absence of skin; Tr
- Missense
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Dominant dystrophic epidermolysis bullosa with abs)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Cited in: Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic… (PMID 8644729)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)