G2683C (p.Gly2683Cys) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2683C (p.Gly2683Cys) 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 Nonsyndromic congenital nail disorder 8; Recessive dystrophic epidermolysis bull.
G2683C (p.Gly2683Cys) variant details
- p.Gly2683Cys
- TOPMed rs1057518863
- Likely pathogenic
- Nonsyndromic congenital nail disorder 8; Recessive dystrophic epidermolysis bull
- Missense
- ClinVar: Likely pathogenic (Nonsyndromic congenital nail disorder 8; Recessive dystrophic ep)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic