R2474G (p.Arg2474Gly) variant of RYR2 (Ryanodine receptor 2)
R2474G (p.Arg2474Gly) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Catecholaminergic polymorphic ventricular tachycardia 1; not provided. The record also includes published literature and structural context.
R2474G (p.Arg2474Gly) variant details
- p.Arg2474Gly
- rs2547025987
- ClinGen CA345398292
- ClinVar RCV003527196
- ClinVar RCV004701725
- Pathogenic/Likely pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1; not pro)
- EBI: Pathogenic (in CPVT1)
- UniProt: Pathogenic (in CPVT1)
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)