L102H (p.Leu102His) variant of CASQ2 (Calsequestrin-2)
L102H (p.Leu102His) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Catecholaminergic polymorphic ventricular tachycardia 1. The record also includes published literature and structural context.
L102H (p.Leu102His) variant details
- p.Leu102His
- rs2526031822
- ClinGen CA341765276
- ClinVar RCV003039820
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 1
- Missense
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)