G2425D (p.Gly2425Asp) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2425D (p.Gly2425Asp) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Generalized dominant dystrophic epidermolysis bullosa.
G2425D (p.Gly2425Asp) variant details
- p.Gly2425Asp
- gnomAD rs1458877386
- Likely pathogenic
- Generalized dominant dystrophic epidermolysis bullosa
- Missense
- ClinVar: Likely pathogenic (Generalized dominant dystrophic epidermolysis bullosa)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic