Variant: rs398124647 

    present in Gene: CALM2
    present in Chromosome: 2
    Position on Chromosome: 47161851
    Alleles of this Variant: T/A;C

rs398124647 in CALM2 gene and LONG QT SYNDROME 15 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 27516456 2016 Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.

PMID 26164367 2015 Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease.

PMID 27165696 2016 Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current.

PMID 23388215 2013 Calmodulin mutations associated with recurrent cardiac arrest in infants.

PMID 24917665 2014 Novel calmodulin mutations associated with congenital arrhythmia susceptibility.

rs398124647 in CALM2 gene and VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 PMID 27516456 2016 Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.

PMID 26164367 2015 Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease.

PMID 23040497 2012 Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death.

PMID 27165696 2016 Arrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium current.