Variant: rs199472921 

    present in Gene: KCNH2
    present in Chromosome: 7
    Position on Chromosome: 150951712
    Alleles of this Variant: C/G;T

rs199472921 in KCNH2 gene and Dysmorphic features PMID 21130771 2011 A novel mutation in the KCNH2 gene associated with short QT syndrome.

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

PMID 18835466 2008 Long QT Syndrome.

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

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

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

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

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

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

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

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

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

rs199472921 in KCNH2 gene and Long Qt Syndrome 2 PMID 16361248 2006 Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.

PMID 12621127 2003 Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.

PMID 12442276 2002 KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

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

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

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

PMID 10517660 1999 Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome.

PMID 12062363 2002 Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.

PMID 10187793 1999 Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation.

PMID 9544837 1998 Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.

PMID 10753933 2000 The dominant negative LQT2 mutation A561V reduces wild-type HERG expression.

PMID 7889573 1995 A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.

PMID 9693036 1998 Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

PMID 11170080 2001 Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.

PMID 10735633 2000 Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.

PMID 9452080 1998 Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family.

PMID 8914737 1996 Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome.

PMID 9024139 1997 Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.

PMID 8635257 1996 Missense mutation in the pore region of HERG causes familial long QT syndrome.

rs199472921 in KCNH2 gene and Multiple congenital anomalies PMID 16926178 2006 Short QT syndrome: clinical findings and diagnostic-therapeutic implications.

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

PMID 18835466 2008 Long QT Syndrome.

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

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

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

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

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

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

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

PMID 25974115 2015 Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome.

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