Disease: Long Qt Syndrome 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.810 GeneticVariation BEFREE We generated LQTS2-specific CMs (A561V missense mutation in KCNH2) from iPSCs using the virus-free reprogramming method. 24623279 2014
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
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
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
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
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
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
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
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
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.810 GeneticVariation UNIPROT KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population. 12442276 2002
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
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
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
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
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
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
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.810 GeneticVariation UNIPROT The dominant negative LQT2 mutation A561V reduces wild-type HERG expression. 10753933 2000
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.810 GeneticVariation UNIPROT Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849 2000
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
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
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.810 GeneticVariation UNIPROT Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 10220144 1999
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
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
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
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
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.810 GeneticVariation UNIPROT Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. 9693036 1998
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.810 GeneticVariation UNIPROT Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family. 9452080 1998
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.810 GeneticVariation UNIPROT Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome. 9024139 1997
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
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
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.810 GeneticVariation UNIPROT Missense mutation in the pore region of HERG causes familial long QT syndrome. 8635257 1996
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		0.810 GeneticVariation UNIPROT A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. 7889573 1995
dbSNP: rs121912504
rs121912504
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C3150943
Disease:
Long Qt Syndrome 2 		A 0.810 CausalMutation CLINVAR