×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
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 (disorder)
1.000
GeneticVariation
CLINVAR
Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry.
28341781 2017
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Facilitatory and inhibitory effects of SCN5A mutations on atrial fibrillation in Brugada syndrome.
21273195 2011
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Natural history of Brugada syndrome: insights for risk stratification and management.
11901046 2002
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths.
29247119 2017
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort.
24388587 2014
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
A comprehensive electrocardiographic, molecular, and echocardiographic study of Brugada syndrome: validation of the 2013 diagnostic criteria.
24721456 2014
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters.
29202755 2017
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction.
12209021 2002
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.
15671429 2005
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death.
15851228 2004
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Substitution of a conserved alanine in the domain IIIS4-S5 linker of the cardiac sodium channel causes long QT syndrome.
16039271 2005
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
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
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.
21321465 2011
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.
9521325 1998
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.
28341588 2017
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations.
16325048 2005
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit.
10618304 2000
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy.
24815523 2014
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay.
22090166 2012
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
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 (disorder)
1.000
CausalMutation
CLINVAR
A novel SCN5A deletion mutation in a child with ventricular tachycardia, recurrent aborted sudden death, and Brugada electrocardiographic pattern.
18361072 2008
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
"A revised view of cardiac sodium channel ""blockade"" in the long-QT syndrome."
10772658 2000
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome.
26798387 2016
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects.
12639704 2003