|
rs199472936
|
|
|
0.830 |
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 |
|
rs199472936
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs199472936
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
rs199472936
|
|
|
0.830 |
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 |
|
rs199472936
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
|
19716085 |
2009 |
|
rs199472936
|
|
|
0.830 |
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 |
|
rs199472936
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
|
19841300 |
2009 |
|
rs199472936
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.
|
18752142 |
2008 |
|
rs199472936
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.
|
18441445 |
2008 |
|
rs199472936
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.
|
16361248 |
2006 |
|
rs199472936
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
|
16922724 |
2006 |
|
rs199472936
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.
|
12621127 |
2003 |
|
rs199472936
|
|
|
0.830 |
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 |
|
rs199472936
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
|
12442276 |
2002 |
|
rs199472936
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.
|
11170080 |
2001 |
|
rs199472936
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2.
|
10735633 |
2000 |
|
rs199472936
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.
|
10862094 |
2000 |
|
rs199472936
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
The dominant negative LQT2 mutation A561V reduces wild-type HERG expression.
|
10753933 |
2000 |
|
rs199472936
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
|
10973849 |
2000 |
|
rs199472936
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects.
|
10483966 |
1999 |
|
rs199472936
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
|
10220144 |
1999 |
|
rs199472936
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation.
|
10187793 |
1999 |
|
rs199472936
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome.
|
10517660 |
1999 |
|
rs199472936
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
|
9693036 |
1998 |
|
rs199472936
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family.
|
9452080 |
1998 |