R17G (p.Arg17Gly) variant of COL17A1 (Collagen alpha-1(XVII) chain)
R17G (p.Arg17Gly) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change.
R17G (p.Arg17Gly) variant details
- p.Arg17Gly
- cosmic curated COSV10079
- ExAC rs752719637
- gnomAD rs752719637
- Missense