rs1553431711
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1553698563
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555814427
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs199473073
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease.
|
20564468 |
2010 |
rs397508112
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
|
19716085 |
2009 |
rs397508112
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
rs397508112
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.
|
15466642 |
2004 |
rs786204395
|
|
TTTC |
0.700 |
GeneticVariation |
CLINVAR |
Desmin mutations and arrhythmogenic right ventricular cardiomyopathy.
|
23168288 |
2013 |
rs786204395
|
|
TTTC |
0.700 |
GeneticVariation |
CLINVAR |
Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.
|
24070718 |
2013 |
rs786204395
|
|
TTTC |
0.700 |
GeneticVariation |
CLINVAR |
Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.
|
20152563 |
2010 |
rs786204778
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs794728565
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
|
19716085 |
2009 |
rs794728865
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs199472910
|
|
|
0.010 |
GeneticVariation |
BEFREE |
KCNH2 p.His492Tyr variant presented Romano-Ward syndrome in the presence of another mutation and heterozygous carriers had mild phenotypes while even heterozygous carriers should be cared for not to encounter secondary factors because incidental factors could manifest "latent" form of p.His492Tyr heterozygous carriers.
|
27816319 |
2017 |
rs28928905
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In conclusion, the Ala490Pro mutation of the human ether-a-go-go-related gene is a rare, novel mutation that was inherited in this family, leading to Romano-Ward syndrome with complete penetrance.
|
17560885 |
2007 |
rs1060502607
|
|
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 |
rs1060502607
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants.
|
24563457 |
2014 |
rs1060502607
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms.
|
24958779 |
2014 |
rs1060502607
|
|
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 |
rs1060502607
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Calmodulin mutations associated with recurrent cardiac arrest in infants.
|
23388215 |
2013 |
rs1060502608
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137854601
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes.
|
10727653 |
2000 |
rs137854601
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families.
|
18508782 |
2008 |
rs137854601
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
rs137854601
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.
|
21321465 |
2011 |