CALM3, calmodulin 3, 808

N. diseases: 215; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060502607
rs1060502607
Entrez Id: 808
Gene Symbol: CALM3
CALM3
CUI: C0035828
Disease:
Romano-Ward Syndrome 		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
Entrez Id: 808
Gene Symbol: CALM3
CALM3
CUI: C0035828
Disease:
Romano-Ward Syndrome 		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
Entrez Id: 808
Gene Symbol: CALM3
CALM3
CUI: C0035828
Disease:
Romano-Ward Syndrome 		C 0.700 CausalMutation CLINVAR Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms. 24958779 2014
dbSNP: rs1060502607
rs1060502607
Entrez Id: 808
Gene Symbol: CALM3
CALM3
CUI: C0035828
Disease:
Romano-Ward Syndrome 		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
Entrez Id: 808
Gene Symbol: CALM3
CALM3
CUI: C0035828
Disease:
Romano-Ward Syndrome 		C 0.700 CausalMutation CLINVAR Calmodulin mutations associated with recurrent cardiac arrest in infants. 23388215 2013
dbSNP: rs1060502608
rs1060502608
Entrez Id: 808
Gene Symbol: CALM3
CALM3
CUI: C0035828
Disease:
Romano-Ward Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1555814427
rs1555814427
Entrez Id: 808
Gene Symbol: CALM3
CALM3
CUI: C0035828
Disease:
Romano-Ward Syndrome 		G 0.700 GeneticVariation CLINVAR