G2114S (p.Gly2114Ser) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2114S (p.Gly2114Ser) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Recessive dystrophic epidermolysis bullosa.
G2114S (p.Gly2114Ser) variant details
- p.Gly2114Ser
- NCI-TCGA Cosmic COSV6039
- Likely pathogenic
- Recessive dystrophic epidermolysis bullosa
- Missense
- ClinVar: Likely pathogenic (Recessive dystrophic epidermolysis bullosa)
- UniProt: Likely pathogenic