Variant: rs137854600

present in Gene: SCN5A present in Chromosome: 3 Position on Chromosome: 38551504 Alleles of this Variant: C/A;T

rs137854600 in SCN5A gene and Brugada Syndrome (disorder) PMID 20090423 2010 Impaired stretch modulation in potentially lethal cardiac sodium channel mutants.

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

PMID 10772658 2000 "A revised view of cardiac sodium channel ""blockade"" in the long-QT syndrome."

PMID 9495298 1998 Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel.

PMID 19167409 2009 Differential modulation of late sodium current by protein kinase A in R1623Q mutant of LQT3.

PMID 15621041 2005 Intrinsic mechanism of the enhanced rate-dependent QT shortening in the R1623Q mutant of the LQT3 syndrome.

PMID 10618304 2000 Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit.

rs137854600 in SCN5A gene and Brugada Syndrome 1 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 16266370 2005 Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties.

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

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

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

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

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

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

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

PMID 23994779 2013 Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes.

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

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

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

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

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

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.

rs137854600 in SCN5A gene and LONG QT SYNDROME 3 PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

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

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

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

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

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

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

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

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

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

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 9506831 1998 Here we characterized a de novo missense mutation (R1623Q, S4 segment of domain 4) identified in an infant Japanese girl with a severe form of LQT3.

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

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

PMID 21810866 2011 HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

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

PMID 26392562 2015 SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.

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

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 7651517 1995 Molecular mechanism for an inherited cardiac arrhythmia.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

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