Variant: rs1060500142 

    present in Gene: RYR2
    present in Chromosome: 1
    Position on Chromosome: 237330939
    Alleles of this Variant: C/T

rs1060500142 in RYR2 gene and VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) PMID 16084945 2005 Juvenile sudden death in a family with polymorphic ventricular arrhythmias caused by a novel RyR2 gene mutation: evidence of specific morphological substrates.

PMID 22374134 2012 Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies.

PMID 19913485 2009 Crystal structures of the N-terminal domains of cardiac and skeletal muscle ryanodine receptors: insights into disease mutations.