R160G (p.Arg160Gly) variant of GNAS (P63092)
R160G (p.Arg160Gly) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pseudohypoparathyroidism type I A. The record also includes structural context.
R160G (p.Arg160Gly) variant details
- p.Arg160Gly
- Ensembl rs2146209821
- Likely pathogenic
- Pseudohypoparathyroidism type I A
- Missense
- ClinVar: Likely pathogenic (Pseudohypoparathyroidism type I A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available