R2008H (p.Arg2008His) variant of COL7A1 (Collagen alpha-1(VII) chain)
R2008H (p.Arg2008His) 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; Transient bullous dermolysis of the newborn; Epidermolysis bullosa. The record also includes variant effect predictions, population frequency data, and published literature.
R2008H (p.Arg2008His) variant details
- p.Arg2008His
- rs1002845719
- ClinGen CA73977055
- ClinVar RCV001780858
- ClinVar RCV002246499
- Pathogenic/Likely pathogenic
- not provided; Transient bullous dermolysis of the newborn; Epidermolysis bullosa
- Missense
- AlphaMissense 0.10
- MetaLR 0.83
- MetaSVM 0.29
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (not provided; Transient bullous dermolysis of the newborn; Epide)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)