K293R (p.Lys293Arg) variant of GNAS (P63092)
K293R (p.Lys293Arg) 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 published literature and structural context.
K293R (p.Lys293Arg) variant details
- p.Lys293Arg
- rs2517269338
- ClinGen CA409453040
- ClinVar RCV003322695
- ClinVar RCV004723265
- Likely pathogenic
- Pseudohypoparathyroidism type I A
- Missense
- ClinVar: Likely pathogenic (Pseudohypoparathyroidism type I A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Disorders of GNAS Inactivation. (PMID 29072892)