G1507V (p.Gly1507Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1507V (p.Gly1507Val) 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.
G1507V (p.Gly1507Val) variant details
- p.Gly1507Val
- NCI-TCGA Cosmic COSV6039
- Likely pathogenic
- Recessive dystrophic epidermolysis bullosa
- Missense
- ClinVar: Likely pathogenic (Recessive dystrophic epidermolysis bullosa)
- UniProt: Likely pathogenic