E120Q (p.Glu120Gln) variant of COL17A1 (Collagen alpha-1(XVII) chain)

Name: COL17A1 E120Q (p.Glu120Gln) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-22
License: https://catvariant.com/terms-of-use

E120Q (p.Glu120Gln) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change.