|
rs199473204
|
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.
|
8541846 |
1995 |
|
rs199473204
|
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular mechanism for an inherited cardiac arrhythmia.
|
7651517 |
1995 |
|
rs199473204
|
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits.
|
9686753 |
1998 |
|
rs199473204
|
|
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 |
|
rs199473204
|
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. Online.
|
10627139 |
1998 |
|
rs199473204
|
|
Brugada Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.
|
9521325 |
1998 |
|
rs199473204
|
|
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 |
|
rs199473204
|
|
Brugada Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent.
|
10532948 |
1999 |
|
rs199473204
|
|
Brugada Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.
|
10690282 |
1999 |
|
rs199473204
|
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations.
|
10508990 |
1999 |
|
rs199473204
|
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A molecular link between the sudden infant death syndrome and the long-QT syndrome.
|
10911008 |
2000 |
|
rs199473204
|
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel.
|
11304498 |
2001 |
|
rs199473204
|
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
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 |
|
rs199473204
|
|
Brugada Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.
|
11823453 |
2002 |
|
rs199473204
|
|
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 |
|
rs199473204
|
|
Brugada Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.
|
12106943 |
2002 |
|
rs199473204
|
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.
|
12454206 |
2003 |
|
rs199473204
|
|
Brugada Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes.
|
15579534 |
2004 |
|
rs199473204
|
|
Brugada Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations.
|
16325048 |
2005 |
|
rs199473204
|
|
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 |
|
rs199473204
|
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
|
16414944 |
2005 |
|
rs199473204
|
|
Brugada Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties.
|
16266370 |
2005 |
|
rs199473204
|
|
Brugada Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
[Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617].
|
17081365 |
2006 |
|
rs199473204
|
|
Brugada Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation.
|
16616735 |
2006 |
|
rs199473204
|
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
|
16922724 |
2006 |