|
rs199473204
|
|
Brugada Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
[Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome].
|
18341814 |
2007 |
|
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
|
|
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 |
|
rs199473204
|
|
Brugada Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
|
18451998 |
2008 |
|
rs199473204
|
|
Brugada Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations.
|
19272188 |
2009 |
|
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 |
Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel.
|
11304498 |
2001 |
|
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 |
A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome.
|
9506831 |
1998 |
|
rs199473204
|
|
Brugada Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
|
19251209 |
2009 |
|
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 |
Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent.
|
10532948 |
1999 |
|
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 |
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 |
Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation.
|
18456723 |
2008 |
|
rs199473204
|
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
|
19716085 |
2009 |
|
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 |
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation.
|
18929331 |
2008 |
|
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 |
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 |
A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.
|
12454206 |
2003 |
|
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
|
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
|
18451998 |
2008 |
|
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 |