|
rs120074186
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.
|
12702160 |
2003 |
|
rs121434386
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We present a case of a 21-month-old Mexican-mestizo female with intermittent 2:1 atrioventricular block and a corrected QT interval of 712 ms. Comprehensive open reading frame/splice mutational analysis of the 9 established LQTS-susceptibility genes proved negative, and complete mutational analysis of the 4 Na(vbeta)-subunits revealed a L179F (C535T) missense mutation in SCN4B that cosegregated properly throughout a 3-generation pedigree and was absent in 800 reference alleles.
|
17592081 |
2007 |
|
rs121434386
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We present a case of a 21-month-old Mexican-mestizo female with intermittent 2:1 atrioventricular block and a corrected QT interval of 712 ms. Comprehensive open reading frame/splice mutational analysis of the 9 established LQTS-susceptibility genes proved negative, and complete mutational analysis of the 4 Na(vbeta)-subunits revealed a L179F (C535T) missense mutation in SCN4B that cosegregated properly throughout a 3-generation pedigree and was absent in 800 reference alleles.
|
17592081 |
2007 |
|
rs121434500
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We conclude that the A390V mutation disrupted binding with PMCA4b, released inhibition of nNOS, caused S-nitrosylation of SCN5A, and was associated with increased late sodium current, which is the characteristic biophysical dysfunction for sodium-channel-mediated LQTS (LQT3).
|
18591664 |
2008 |
|
rs12720449
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Given the inconsistencies between the genotype (LQT1) and clinical phenotype (LQT2) in our two LQTS families, together with the finding that the P448R appears to be a common, ethnic-specific polymorphism, mutational analysis was extended to the other LQTS-causing genes resulting in the identification of distinct HERG missense mutations in each of these two families.
|
15242738 |
2004 |
|
rs12720458
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Images in cardiovascular medicine. Himalayan T waves in the congenital long-QT syndrome.
|
15781747 |
2005 |
|
rs12720458
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.
|
23392653 |
2013 |
|
rs12720458
|
|
G |
0.700 |
GeneticVariation |
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 |
|
rs12720458
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
|
rs12720458
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.
|
26546361 |
2015 |
|
rs12720458
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
|
27831900 |
2016 |
|
rs12720458
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
|
19841300 |
2009 |
|
rs12720458
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.
|
22949429 |
2012 |
|
rs12720459
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The genetic spectrum of LQTS in 44 South African cLQTS patients (23 known to carry the South African founder mutation p.A341V in KCNQ1) was established by screening for mutations in the coding regions of KCNQ1, KCNH2, KCNE1, KCNE2 and SCN5A, the most frequently implicated cLQTS-causing genes (five-gene screening).
|
24217263 |
2013 |
|
rs12720459
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We tested the hypothesis that common variants in NOS1AP modify the risk of clinical manifestations and the degree of QT-interval prolongation in a South African LQTS population (500 subjects, 205 mutation carriers) segregating a founder mutation in KCNQ1 (A341V) using a family-based association analysis.
|
19822806 |
2009 |
|
rs12720459
|
|
|
0.040 |
GeneticVariation |
BEFREE |
With this method, we identified the mutation(s) in all four patients with congenital LQTS (KCNQ1 A341V, KCNH2 N633D, KCNH2 2768Cdel and KCNE1 K70 N Y81C double mutations).
|
16155735 |
2005 |
|
rs12720459
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The LQTS-associated A341V mutation rendered the IKs channel more sensitive to the inhibitory effects of isoflurane compared to wild-type IKs in transfected cell lines; F340 is a key residue for anesthetic action.
|
25585005 |
2015 |
|
rs137854601
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.
|
21321465 |
2011 |
|
rs137854601
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
|
18451998 |
2008 |
|
rs137854601
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Gene sequencing in neonates and infants with the long QT syndrome.
|
16379539 |
2005 |
|
rs137854601
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.
|
10377081 |
1999 |
|
rs137854601
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes.
|
10727653 |
2000 |
|
rs137854601
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Natural history of Brugada syndrome: insights for risk stratification and management.
|
11901046 |
2002 |
|
rs137854601
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands.
|
24871449 |
2014 |
|
rs1480085793
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We present a case of a 21-month-old Mexican-mestizo female with intermittent 2:1 atrioventricular block and a corrected QT interval of 712 ms. Comprehensive open reading frame/splice mutational analysis of the 9 established LQTS-susceptibility genes proved negative, and complete mutational analysis of the 4 Na(vbeta)-subunits revealed a L179F (C535T) missense mutation in SCN4B that cosegregated properly throughout a 3-generation pedigree and was absent in 800 reference alleles.
|
17592081 |
2007 |