×
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
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
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
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
Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).
28600387
2017
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Heritability in a SCN5A-mutation founder population with increased female susceptibility to non-nocturnal ventricular tachyarrhythmia and sudden cardiac death.
28782696
2017
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).
28600387
2017
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
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
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
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
27930701
2016
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
A Brugada syndrome proband with compound heterozygote SCN5A mutations identified from a Chinese family in Singapore.
25829473
2016
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations.
27287068
2016
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Genetic analysis of cardiac SCN5A Gene in Iranian patients with hereditary cardiac arrhythmias.
26467377
2016
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Mutations in the Voltage Sensors of Domains I and II of Nav1.5 that are Associated with Arrhythmias and Dilated Cardiomyopathy Generate Gating Pore Currents.
26733869
2015
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture.
26111534
2015
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.
26173111
2015
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Direct Measurement of Cardiac Na+ Channel Conformations Reveals Molecular Pathologies of Inherited Mutations.
26283144
2015
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.
26392562
2015
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
UniProt: a hub for protein information.
25348405
2015
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome.
25650408
2015
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Familial Paralysis of the Atrium Due to a Mutation in SCN5A.
26304136
2015
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.
26173111
2015
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels.
25741286
2015
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.
25904541
2015