D2300H (p.Asp2300His) variant of RYR2 (Ryanodine receptor 2)
D2300H (p.Asp2300His) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Catecholaminergic polymorphic ventricular tachycardia 1. The record also includes published literature and structural context.
D2300H (p.Asp2300His) variant details
- p.Asp2300His
- rs2546959528
- ClinGen CA345395647
- ClinVar RCV003640103
- Likely pathogenic
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- ClinVar: Likely pathogenic (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Likely pathogenic
- UniProt: Likely 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)