D400A (p.Asp400Ala) variant of RYR2 (Ryanodine receptor 2)
D400A (p.Asp400Ala) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Catecholaminergic polymorphic ventricular tachycardia 1. The record also includes published literature and structural context.
D400A (p.Asp400Ala) variant details
- p.Asp400Ala
- rs2528379037
- ClinGen CA345377494
- ClinVar RCV002963374
- Pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- ClinVar: Pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)