Variant: rs773724817 

    present in Gene: KCNH2
    present in Chromosome: 7
    Position on Chromosome: 150948861
    Alleles of this Variant: G/A

rs773724817 in KCNH2 gene and Long QT Syndrome PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 22515331 2012 KCNH2 gene mutation: a potential link between epilepsy and long QT-2 syndrome.

PMID 12566525 2003 The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome.

PMID 19324319 2009 Aminoglycoside antibiotics restore functional expression of truncated HERG channels produced by nonsense mutations.

PMID 14714110 2004 These data suggest that R863X failed to form functional HERG channels, contributing to a prolongation of the QT interval and long QT syndrome with a dominant phenotype.

rs773724817 in KCNH2 gene and Overgrowth PMID 15828882 2005 Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.

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

PMID 18835466 2008 Long QT Syndrome.

PMID 24400717 2014 Gain-of-function KCNH2 mutations in patients with Brugada syndrome.

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

PMID 16926178 2006 Short QT syndrome: clinical findings and diagnostic-therapeutic implications.

PMID 27761161 2016 Molecular pathogenesis of long QT syndrome type 2.

PMID 21130771 2011 A novel mutation in the KCNH2 gene associated with short QT syndrome.

PMID 10220144 1999 Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

PMID 17210839 2007 Prevalence of long-QT syndrome gene variants in sudden infant death 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 25974115 2015 Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome.

PMID 11136691 2001 Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.

PMID 12925462 2003 Short QT Syndrome: a familial cause of sudden death.