G70E (p.Gly70Glu) variant of COL7A1 (Collagen alpha-1(VII) chain)
G70E (p.Gly70Glu) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change.
G70E (p.Gly70Glu) variant details
- p.Gly70Glu
- Ensembl rs929710317
- Missense
G70E (p.Gly70Glu) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change.