rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).
21810866
2011
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
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
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
16922724
2006
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.
16361248
2006
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.
12621127
2003
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
12442276
2002
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
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
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.
11170080
2001
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
10973849
2000
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
The dominant negative LQT2 mutation A561V reduces wild-type HERG expression.
10753933
2000
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.
10735633
2000
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
BEFREE
Here we show that the N470D LQT2 mutant protein is trafficking-deficient when expressed at 37 degrees C in HEK293 cells, whereas at 27 degrees C its trafficking to the plasma membrane and channel function are markedly improved.
10531299
1999
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation.
10187793
1999
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
10220144
1999
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome.
10517660
1999
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
9693036
1998
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family.
9452080
1998
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.
9544837
1998
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
9024139
1997
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
Missense mutation in the pore region of HERG causes familial long QT syndrome.
8635257
1996
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome.
8914737
1996
rs121912505
×
Entrez Id:
3757
Gene Symbol:
KCNH2
KCNH2
Long Qt Syndrome 2
0.810
GeneticVariation
UNIPROT
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.
7889573
1995