Variant: rs1060502607 

    present in Gene: CALM3
    present in Chromosome: 19
    Position on Chromosome: 46608846
    Alleles of this Variant: G/C

rs1060502607 in CALM3 gene and Romano-Ward Syndrome PMID 23388215 2013 Calmodulin mutations associated with recurrent cardiac arrest in infants.

PMID 24816216 2014 Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes.

PMID 26969752 2016 Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.

PMID 24958779 2014 Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms.

PMID 24563457 2014 Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants.