G47C (p.Gly47Cys) variant of COL17A1 (Collagen alpha-1(XVII) chain)
G47C (p.Gly47Cys) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change.
G47C (p.Gly47Cys) variant details
- p.Gly47Cys
- cosmic curated COSV99056
- ExAC rs757578341
- gnomAD rs757578341
- Missense