|
Brugada Syndrome 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.
|
12454206 |
2003 |
|
Hereditary bundle branch system defect
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.
|
12569159 |
2003 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome.
|
9506831 |
1998 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A molecular link between the sudden infant death syndrome and the long-QT syndrome.
|
10911008 |
2000 |
|
Brugada Syndrome (disorder)
|
|
0.740 |
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 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation.
|
18929331 |
2008 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response.
|
18060054 |
2007 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction.
|
12209021 |
2002 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation.
|
16616735 |
2006 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A sodium channel pore mutation causing Brugada syndrome.
|
17198989 |
2007 |
|
Hereditary bundle branch system defect
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A sodium-channel mutation causes isolated cardiac conduction disease.
|
11234013 |
2001 |
|
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
BEFREE |
Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada syndrome.
|
18503232 |
2008 |
|
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
CLINVAR |
Accelerated inactivation in a mutant Na(+) channel associated with idiopathic ventricular fibrillation.
|
11123251 |
2001 |
|
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
CLINVAR |
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
|
20129283 |
2010 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome.
|
18252757 |
2008 |
|
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
CLINVAR |
Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit.
|
10618304 |
2000 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.
|
8541846 |
1995 |
|
Hereditary bundle branch system defect
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.
|
11804990 |
2002 |
|
Long QT Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac sodium channel.
|
18065446 |
2008 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
|
Hereditary bundle branch system defect
|
|
0.700 |
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 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.
|
10377081 |
1999 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.
|
26279430 |
2015 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations.
|
19272188 |
2009 |