×
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
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
A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.
12522116 2003
×
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
A connexin40 mutation associated with a malignant variant of progressive familial heart block type I.
22247482 2012
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
A connexin40 mutation associated with a malignant variant of progressive familial heart block type I.
22247482 2012
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome.
9506831 1998
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
A heterozygous deletion mutation in the cardiac sodium channel gene SCN5A with loss- and gain-of-function characteristics manifests as isolated conduction disease, without signs of Brugada or long QT syndrome.
23840796 2013
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease.
11827685 2002
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation.
18929331 2008
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia.
17897635 2007
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
A novel LQT3 mutation implicates the human cardiac sodium channel domain IVS6 in inactivation kinetics.
12650885 2003
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
A novel mechanism for LQT3 with 2:1 block: a pore-lining mutation in Nav1.5 significantly affects voltage-dependence of activation.
21193062 2011
×
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
GeneticVariation
CLINVAR
A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome.
10940383 2000
×
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
A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations.
21840964 2011
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
A proton leak current through the cardiac sodium channel is linked to mixed arrhythmia and the dilated cardiomyopathy phenotype.
22675453 2012
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome.
22984773 2013
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs.
15023552 2004
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
A transgenic zebrafish model of a human cardiac sodium channel mutation exhibits bradycardia, conduction-system abnormalities and early death.
23791817 2013
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Absence of pathognomonic or inflammatory patterns in cardiac biopsies from patients with Brugada syndrome.
19808440 2009
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Accelerated inactivation in a mutant Na(+) channel associated with idiopathic ventricular fibrillation.
11123251 2001
×
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
GeneticVariation
CLINVAR
Biomarker discovery by plasma proteomics in familial Brugada Syndrome.
23276942 2013