Variant: rs121912504 

    present in Gene: KCNH2
    present in Chromosome: 7
    Position on Chromosome: 150951711
    Alleles of this Variant: G/A

rs121912504 in KCNH2 gene and Long Qt Syndrome 2 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 11170080 2001 Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.

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

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

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

PMID 16361248 2006 Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.

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

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

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

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

PMID 12621127 2003 Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal 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 10735633 2000 Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.

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

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

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

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

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

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