|
rs120074189
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The disruption of hERG trafficking caused by the KCNQ1-T587M mutation is likely the reason why some patients exhibit severe LQTS phenotypes.
|
30591322 |
2019 |
|
rs120074189
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
UniProt: a hub for protein information.
|
25348405 |
2015 |
|
rs120074189
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Long QT syndrome in South Africa: the results of comprehensive genetic screening.
|
24217263 |
2013 |
|
rs120074189
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Trafficking-competent KCNQ1 variably influences the function of HERG long QT alleles.
|
20348026 |
2010 |
|
rs120074189
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Fetal atrioventricular block and postpartum augmentative QT prolongation in a patient with long-QT syndrome with KCNQ1 mutation.
|
20487114 |
2010 |
|
rs120074189
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The trafficking-deficient LQTS mutation KCNQ1-T587M fails to show the chaperoning function that enhances KCNH2 membrane localization with KCNQ1-WT.
|
19959132 |
2009 |
|
rs120074189
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
We hypothesized that failure of trafficking-deficient KCNQ1-T587M to enhance KCNH2 membrane expression could reduce KCNH2 current versus wild-type KCNQ1 (KCNQ1-WT), contributing to the LQTS phenotype of KCNQ1-T587M carriers.
|
19959132 |
2009 |
|
rs120074189
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
|
19841300 |
2009 |
|
rs120074189
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.
|
18752142 |
2008 |
|
rs120074189
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan.
|
15234419 |
2004 |
|
rs120074189
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus.
|
11162126 |
2001 |
|
rs120074189
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.
|
10024302 |
1999 |
|
rs120074189
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.
|
9799083 |
1998 |