rs17215500
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden.
|
22539601 |
2012 |
rs17215500
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
|
23098067 |
2012 |
rs17215500
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.
|
26546361 |
2015 |
rs17215500
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Jervell and Lange-Nielsen syndrome: a Norwegian perspective.
|
10704188 |
1999 |
rs17215500
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1.
|
24912595 |
2014 |
rs17215500
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.
|
24552659 |
2014 |
rs17215500
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.
|
10482963 |
1999 |
rs17215500
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel.
|
22309168 |
2012 |
rs17215500
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome).
|
14510661 |
2003 |
rs199472696
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
|
10973849 |
2000 |
rs199472696
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions.
|
19934648 |
2010 |
rs199472696
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
|
9386136 |
1997 |
rs199472696
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
rs199472696
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.
|
23392653 |
2013 |
rs199472696
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.
|
9312006 |
1997 |
rs397508111
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.
|
10728423 |
2000 |
rs397508111
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome.
|
10560595 |
1999 |
rs397508111
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome.
|
22429796 |
2012 |
rs397508111
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome.
|
21350584 |
2011 |
rs397508112
|
|
C |
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 |
rs397508112
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.
|
15466642 |
2004 |
rs397508112
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
rs786204778
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs794728565
|
|
T |
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 |