G2333R (p.Gly2333Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2333R (p.Gly2333Arg) 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 Nonsyndromic congenital nail disorder 8; Recessive dystrophic epidermolysis bull.
G2333R (p.Gly2333Arg) variant details
- p.Gly2333Arg
- Ensembl rs1339577574
- Likely pathogenic
- Nonsyndromic congenital nail disorder 8; Recessive dystrophic epidermolysis bull
- Missense
- ClinVar: Likely pathogenic (Nonsyndromic congenital nail disorder 8; Recessive dystrophic ep)
- UniProt: Likely pathogenic