E53G (p.Glu53Gly) variant of COL17A1 (Collagen alpha-1(XVII) chain)
E53G (p.Glu53Gly) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change.
E53G (p.Glu53Gly) variant details
- p.Glu53Gly
- ExAC rs758926317
- gnomAD rs758926317
- Missense
E53G (p.Glu53Gly) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change.