Variant: rs1553706324 

    present in Gene: SCN5A
    present in Chromosome: 3
    Position on Chromosome: 38614067
    Alleles of this Variant: C/G

rs1553706324 in SCN5A gene and Multiple congenital anomalies PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 9753711 1998 Influence of the genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group.

PMID 22999724 2012 R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.

PMID 10940383 2000 A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome.

PMID 18378609 2008 Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.

PMID 22766342 2012 Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.

PMID 16684018 2006 SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias.

PMID 10471492 1999 Cardiac conduction defects associate with mutations in SCN5A.

PMID 17210839 2007 Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.

PMID 16453024 2006 A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y.

PMID 25274057 2014 Genetic and clinical advances in congenital long QT syndrome.

PMID 15655131 2005 Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association.

PMID 14523039 2003 Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).

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

PMID 20100972 2010 Long-term prognosis of patients diagnosed with Brugada syndrome: Results from the FINGER Brugada Syndrome Registry.

PMID 11710892 2001 Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.

PMID 20129283 2010 An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

PMID 12736279 2003 Risk stratification in the long-QT syndrome.

PMID 22840528 2012 Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.