Gene: SCN5A ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854601
rs137854601
SCN5A
0.820 GeneticVariation UNIPROT SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia. 26392562

2015
dbSNP: rs137854601
rs137854601
SCN5A
T 0.820 CausalMutation CLINVAR High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands. 24871449

2014
dbSNP: rs137854601
rs137854601
SCN5A
T 0.820 CausalMutation CLINVAR The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. 24784157

2014
dbSNP: rs137854601
rs137854601
SCN5A
T 0.820 CausalMutation CLINVAR Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. 21321465

2011
dbSNP: rs137854601
rs137854601
SCN5A
0.820 GeneticVariation UNIPROT Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085

2009
dbSNP: rs137854601
rs137854601
SCN5A
T 0.820 CausalMutation CLINVAR Heterologously expressed E1784K channels showed a 15.0-mV negative shift in the voltage dependence of Na channel inactivation and a 7.5-fold increase in flecainide affinity for resting-state channels, properties also seen with other LQT3 mutations associated with a mixed clinical phenotype. 18451998

2008
dbSNP: rs137854601
rs137854601
SCN5A
0.820 GeneticVariation UNIPROT Heterologously expressed E1784K channels showed a 15.0-mV negative shift in the voltage dependence of Na channel inactivation and a 7.5-fold increase in flecainide affinity for resting-state channels, properties also seen with other LQT3 mutations associated with a mixed clinical phenotype. 18451998

2008
dbSNP: rs137854601
rs137854601
SCN5A
0.820 GeneticVariation UNIPROT A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation. 18929331

2008
dbSNP: rs137854601
rs137854601
SCN5A
0.820 GeneticVariation UNIPROT A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response. 18060054

2007
dbSNP: rs137854601
rs137854601
SCN5A
0.820 GeneticVariation UNIPROT Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. 16922724

2006
dbSNP: rs137854601
rs137854601
SCN5A
0.820 GeneticVariation UNIPROT Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs137854601
rs137854601
SCN5A
0.820 GeneticVariation UNIPROT Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. 16414944

2005
dbSNP: rs137854601
rs137854601
SCN5A
0.820 GeneticVariation UNIPROT A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation. 12454206

2003
dbSNP: rs137854601
rs137854601
SCN5A
0.820 GeneticVariation UNIPROT A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction. 12209021

2002
dbSNP: rs137854601
rs137854601
SCN5A
0.820 GeneticVariation UNIPROT Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. 11410597

2001
dbSNP: rs137854601
rs137854601
SCN5A
0.820 GeneticVariation UNIPROT Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel. 11304498

2001
dbSNP: rs137854601
rs137854601
SCN5A
0.820 GeneticVariation UNIPROT A molecular link between the sudden infant death syndrome and the long-QT syndrome. 10911008

2000
dbSNP: rs137854601
rs137854601
SCN5A
T 0.820 CausalMutation CLINVAR Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. 10727653

2000
dbSNP: rs137854601
rs137854601
SCN5A
T 0.820 CausalMutation CLINVAR Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 10377081

1999
dbSNP: rs137854601
rs137854601
SCN5A
0.820 GeneticVariation UNIPROT Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 10377081

1999
dbSNP: rs137854601
rs137854601
SCN5A
0.820 GeneticVariation UNIPROT Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations. 10508990

1999
dbSNP: rs137854601
rs137854601
SCN5A
0.820 GeneticVariation UNIPROT A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome. 9506831

1998
dbSNP: rs137854601
rs137854601
SCN5A
0.820 GeneticVariation UNIPROT Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits. 9686753

1998
dbSNP: rs137854601
rs137854601
SCN5A
0.820 GeneticVariation UNIPROT Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. Online. 10627139

1998
dbSNP: rs137854601
rs137854601
SCN5A
0.820 GeneticVariation UNIPROT Molecular mechanism for an inherited cardiac arrhythmia. 7651517

1995