C2929F (p.Cys2929Phe) variant of COL7A1 (Collagen alpha-1(VII) chain)
C2929F (p.Cys2929Phe) 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; Recessive dystrophic epidermolysis bullosa; Epidermolysis bullosa. The record also includes variant effect predictions, population frequency data, and published literature.
C2929F (p.Cys2929Phe) variant details
- p.Cys2929Phe
- rs2043530046
- ClinGen CA352632598
- ClinVar RCV003666162
- ClinVar RCV006269864
- Pathogenic/Likely pathogenic
- not provided; Recessive dystrophic epidermolysis bullosa; Epidermolysis bullosa
- Missense
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Recessive dystrophic epidermolysis bullosa; Epider)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)