rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
T
0.800
CausalMutation
CLINVAR
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
27041150
2016
rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.800
GeneticVariation
UNIPROT
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
19716085
2009
rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.800
GeneticVariation
UNIPROT
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
16922724
2006
rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.800
GeneticVariation
UNIPROT
Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.
16361248
2006
rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.800
GeneticVariation
UNIPROT
Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.
12621127
2003
rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.800
GeneticVariation
UNIPROT
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
12442276
2002
rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.800
GeneticVariation
UNIPROT
Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.
12062363
2002
rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.800
GeneticVariation
UNIPROT
Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.
11170080
2001
rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.800
GeneticVariation
UNIPROT
The dominant negative LQT2 mutation A561V reduces wild-type HERG expression.
10753933
2000
rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.800
GeneticVariation
UNIPROT
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
10973849
2000
rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.800
GeneticVariation
UNIPROT
Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.
10735633
2000
rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.800
GeneticVariation
UNIPROT
Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome.
10517660
1999
rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.800
GeneticVariation
UNIPROT
Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation.
10187793
1999
rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.800
GeneticVariation
UNIPROT
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
10220144
1999
rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.800
GeneticVariation
UNIPROT
Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family.
9452080
1998
rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.800
GeneticVariation
UNIPROT
Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.
9544837
1998
rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.800
GeneticVariation
UNIPROT
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
9693036
1998
rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.800
GeneticVariation
UNIPROT
Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
9024139
1997
rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.800
GeneticVariation
UNIPROT
Missense mutation in the pore region of HERG causes familial long QT syndrome.
8635257
1996
rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.800
GeneticVariation
UNIPROT
Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome.
8914737
1996
rs199472970
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.800
GeneticVariation
UNIPROT
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.
7889573
1995