rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
A
0.800
GeneticVariation
CLINVAR
Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan.
23595086
2013
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
A
0.800
GeneticVariation
CLINVAR
Follow-up with exercise test of effort-induced ventricular arrhythmias linked to ryanodine receptor type 2 gene mutations.
22221940
2012
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia.
19398665
2009
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
A
0.800
GeneticVariation
CLINVAR
Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing.
16188589
2005
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
A
0.800
GeneticVariation
CLINVAR
Denaturing HPLC-based approach for detecting RYR2 mutations involved in malignant arrhythmias.
15131021
2004
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
A
0.800
GeneticVariation
CLINVAR
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.
19926015
2009
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing.
16188589
2005
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
A
0.800
CausalMutation
CLINVAR
Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).
28600387
2017
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
A
0.800
GeneticVariation
CLINVAR
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
24136861
2014
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
A
0.800
GeneticVariation
CLINVAR
Mechanisms of Disease: ryanodine receptor defects in heart failure and fatal arrhythmia.
16391617
2006
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
0.800
GeneticVariation
UNIPROT
Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia.
11208676
2001
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
0.800
GeneticVariation
UNIPROT
Structural insights into the human RyR2 N-terminal region involved in cardiac arrhythmias.
25372681
2014
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
0.800
GeneticVariation
UNIPROT
Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases.
15544015
2004
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
0.800
GeneticVariation
UNIPROT
Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers.
12106942
2002
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
0.800
GeneticVariation
UNIPROT
Loss of luminal Ca2+ activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden death.
17984046
2007
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
0.800
GeneticVariation
UNIPROT
Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia.
11157710
2001
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
0.800
GeneticVariation
UNIPROT
Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms.
14571276
2003
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
0.800
GeneticVariation
UNIPROT
A novel RyR2 mutation in a 2-year-old baby presenting with atrial fibrillation, atrial flutter, and atrial ectopic tachycardia.
24793461
2014
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
0.800
GeneticVariation
UNIPROT
Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias.
15046073
2004
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
0.800
GeneticVariation
UNIPROT
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.
12093772
2002
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
0.800
GeneticVariation
UNIPROT
Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing.
16188589
2005
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
0.800
GeneticVariation
UNIPROT
Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias.
27733687
2016
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
0.800
GeneticVariation
UNIPROT
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.
15466642
2004
rs794728753
×
Entrez Id:
6262
Gene Symbol:
RYR2
RYR2
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
0.800
GeneticVariation
UNIPROT
Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias.
15046072
2004