Gene: CALM3 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060502607
rs1060502607
CALM3
C 0.700 CausalMutation CLINVAR 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. 26969752

2016
dbSNP: rs1060502607
rs1060502607
CALM3
C 0.700 CausalMutation CLINVAR Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. 24563457

2014
dbSNP: rs1060502607
rs1060502607
CALM3
C 0.700 CausalMutation CLINVAR Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms. 24958779

2014
dbSNP: rs1060502607
rs1060502607
CALM3
C 0.700 CausalMutation CLINVAR Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes. 24816216

2014
dbSNP: rs1060502607
rs1060502607
CALM3
C 0.700 CausalMutation CLINVAR Calmodulin mutations associated with recurrent cardiac arrest in infants. 23388215

2013
dbSNP: rs1060502608
rs1060502608
CALM3
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555814427
rs1555814427
CALM3
G 0.700 GeneticVariation CLINVAR