Variant: rs137854618 

    present in Gene: SCN5A
    present in Chromosome: 3
    Position on Chromosome: 38566426
    Alleles of this Variant: C/A;T

rs137854618 in SCN5A gene and ATRIAL STANDSTILL 1 PMID 23420830 2013 MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.

PMID 12522116 2003 A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.

rs137854618 in SCN5A gene and Brugada Syndrome (disorder) PMID 12522116 2003 A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.

PMID 21824921 2011 Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro.

PMID 24762805 2014 Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics.

PMID 26111534 2015 Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture.

PMID 22247482 2012 A connexin40 mutation associated with a malignant variant of progressive familial heart block type I.

PMID 23791817 2013 A transgenic zebrafish model of a human cardiac sodium channel mutation exhibits bradycardia, conduction-system abnormalities and early death.

PMID 24136861 2014 Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

PMID 21596231 2011 SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.

rs137854618 in SCN5A gene and Brugada Syndrome 1 PMID 23994779 2013 Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes.

PMID 18341814 2007 [Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome].

PMID 24167619 2013 Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome.

PMID 18451998 2008 The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.

PMID 18456723 2008 Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation.

PMID 9521325 1998 Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.

PMID 19272188 2009 Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations.

PMID 17081365 2006 [Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617].

PMID 26279430 2015 De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.

PMID 18252757 2008 Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome.

PMID 12106943 2002 Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.

PMID 17198989 2007 A sodium channel pore mutation causing Brugada syndrome.

PMID 15579534 2004 Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes.

PMID 16266370 2005 Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties.

PMID 16325048 2005 High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations.

PMID 16616735 2006 A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation.

PMID 11823453 2002 Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.

PMID 10690282 1999 Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.

PMID 26776555 2016 SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel.

PMID 10532948 1999 Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent.

PMID 19251209 2009 Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.

rs137854618 in SCN5A gene and CARDIOMYOPATHY, DILATED, 1E PMID 23420830 2013 MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.

PMID 15466643 2004 SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.

rs137854618 in SCN5A gene and Hereditary bundle branch system defect PMID 12574143 2003 Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.

PMID 11804990 2002 Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.

PMID 23420830 2013 MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.

PMID 19251209 2009 Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.

PMID 11234013 2001 A sodium-channel mutation causes isolated cardiac conduction disease.

PMID 12569159 2003 A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.