C2929Y (p.Cys2929Tyr) variant of COL7A1 (Collagen alpha-1(VII) chain)
C2929Y (p.Cys2929Tyr) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Epidermolysis bullosa dystrophica; not provided; Recessive dystrophic epidermoly.
C2929Y (p.Cys2929Tyr) variant details
- p.Cys2929Tyr
- TOPMed rs2043530046
- Pathogenic/Likely pathogenic
- Epidermolysis bullosa dystrophica; not provided; Recessive dystrophic epidermoly
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Epidermolysis bullosa dystrophica; not provided; Recessive dystr)
- UniProt: Likely pathogenic