Variant: rs121918601 

    present in Gene: RYR2
    present in Chromosome: 1
    Position on Chromosome: 237640938
    Alleles of this Variant: A/T

rs121918601 in RYR2 gene and ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 PMID 11159936 2001 Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).

rs121918601 in RYR2 gene and VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) PMID 11157710 2001 Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia.

PMID 14571276 2003 Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms.

PMID 27733687 2016 Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias.

PMID 15046073 2004 Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias.

PMID 12093772 2002 Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.

PMID 15046072 2004 Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias.

PMID 12106942 2002 Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers.

PMID 15466642 2004 Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.

PMID 16188589 2005 Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing.

PMID 17984046 2007 Loss of luminal Ca2+ activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden death.

PMID 11208676 2001 Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia.

PMID 24793461 2014 A novel RyR2 mutation in a 2-year-old baby presenting with atrial fibrillation, atrial flutter, and atrial ectopic tachycardia.

PMID 25372681 2014 Structural insights into the human RyR2 N-terminal region involved in cardiac arrhythmias.

PMID 15544015 2004 Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases.