R2008G (p.Arg2008Gly) variant of COL7A1 (Collagen alpha-1(VII) chain)
R2008G (p.Arg2008Gly) 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 Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bu. The record also includes variant effect predictions, population frequency data, and published literature.
R2008G (p.Arg2008Gly) variant details
- p.Arg2008Gly
- rs1055680335
- ClinGen CA73977057
- ClinVar RCV001223280
- ClinVar RCV005036489
- Pathogenic
- Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bu
- Missense
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Pathogenic (Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa. (PMID 10084325)
- Cited in: Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for… (PMID 9326325)