×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
1.000
GeneticVariation
UNIPROT
Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. Online.
10627139
1998
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
1.000
GeneticVariation
UNIPROT
One form of hereditary long QT (LQT3 ) has been linked to a mutation in the gene encoding the human heart voltage-gated sodium-channel alpha-subunit (SCN5A on chromosome 3p21).
7651517
1995
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
1.000
GeneticVariation
UNIPROT
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome.
7889574
1995
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
LONG QT SYNDROME 3
1.000
GeneticVariation
UNIPROT
Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.
8541846
1995
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Hereditary bundle branch system defect
0.980
GeneticVariation
UNIPROT
MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.
23420830
2013
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Hereditary bundle branch system defect
0.980
GeneticVariation
UNIPROT
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
19251209
2009
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Hereditary bundle branch system defect
0.980
GeneticVariation
UNIPROT
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.
12569159
2003
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Hereditary bundle branch system defect
0.980
GeneticVariation
UNIPROT
Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.
12574143
2003
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Hereditary bundle branch system defect
0.980
GeneticVariation
UNIPROT
Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.
11804990
2002
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Hereditary bundle branch system defect
0.980
GeneticVariation
UNIPROT
A sodium-channel mutation causes isolated cardiac conduction disease.
11234013
2001
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel.
26776555
2016
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.
26279430
2015
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient.
23085483
2013
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome.
24167619
2013
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.
23420830
2013
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
20129283
2010
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
19251209
2009
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations.
19272188
2009
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome.
18252757
2008
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
18451998
2008
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel.
18616619
2008
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation.
18456723
2008
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
A sodium channel pore mutation causing Brugada syndrome.
17198989
2007
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
[Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome].
18341814
2007
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome 1
0.910
GeneticVariation
UNIPROT
A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation.
16616735
2006