Variant: rs137854601 

    present in Gene: SCN5A
    present in Chromosome: 3
    Position on Chromosome: 38551022
    Alleles of this Variant: C/A;T

rs137854601 in SCN5A gene and Brugada Syndrome (disorder) PMID 10961955 2000 The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge.

PMID 16379539 2005 Gene sequencing in neonates and infants with the long QT syndrome.

PMID 21321465 2011 Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.

PMID 11901046 2002 Natural history of Brugada syndrome: insights for risk stratification and management.

PMID 18452873 2008 Prevalence of early-onset atrial fibrillation in congenital long QT syndrome.

PMID 10973849 2000 Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

PMID 10377081 1999 Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 12877697 2003 Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome.

PMID 23631430 2013 Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

PMID 24871449 2014 High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands.

PMID 18451998 2008 Of 41 E1784K carriers, 93% had LQT3, 22% had BrS, and 39% had sinus node dysfunction.

PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 10727653 2000 Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes.

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

PMID 19841300 2009 Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

rs137854601 in SCN5A gene and Brugada Syndrome 1 PMID 16616735 2006 A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation.

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

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

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

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

PMID 18341814 2007 [Gene (SCN5A) mutation analysis of a Chinese family with 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 18451998 2008 The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.

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

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

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

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

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

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

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

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

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

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

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

rs137854601 in SCN5A gene and Congenital long QT syndrome PMID 24871449 2014 High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands.

PMID 21321465 2011 Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.

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

PMID 11901046 2002 Natural history of Brugada syndrome: insights for risk stratification and management.

PMID 16379539 2005 Gene sequencing in neonates and infants with the long QT syndrome.

PMID 10727653 2000 Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes.

PMID 10377081 1999 Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.

rs137854601 in SCN5A gene and LONG QT SYNDROME 3 PMID 26392562 2015 SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.

PMID 10377081 1999 Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.

PMID 8541846 1995 Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.

PMID 9686753 1998 Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits.

PMID 18451998 2008 Heterologously expressed E1784K channels showed a 15.0-mV negative shift in the voltage dependence of Na channel inactivation and a 7.5-fold increase in flecainide affinity for resting-state channels, properties also seen with other LQT3 mutations associated with a mixed clinical phenotype.

PMID 24871449 2014 High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands.

PMID 7651517 1995 Molecular mechanism for an inherited cardiac arrhythmia.

PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 10911008 2000 A molecular link between the sudden infant death syndrome and the long-QT syndrome.

PMID 21321465 2011 Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.

PMID 24784157 2014 The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.

PMID 10727653 2000 Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes.

PMID 11304498 2001 Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel.

PMID 11410597 2001 Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes.

PMID 12209021 2002 A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction.

PMID 16922724 2006 Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 10627139 1998 Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. Online.

PMID 10508990 1999 Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations.

PMID 12454206 2003 A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.

PMID 16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

PMID 18929331 2008 A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation.

PMID 18060054 2007 A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response.

PMID 9506831 1998 A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome.

rs137854601 in SCN5A gene and Romano-Ward Syndrome PMID 10727653 2000 Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes.

PMID 21321465 2011 Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.

PMID 10377081 1999 Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.

PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 18508782 2008 Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families.