rs120074178
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Romano-Ward Long QT Syndrome |
(G;G) | 0 | common in clinvar |
Make rs120074178(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2570719 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs120074178 |
dbSNP (classic) | rs120074178 |
ClinGen | rs120074178 |
ebi | rs120074178 |
HLI | rs120074178 |
Exac | rs120074178 |
Gnomad | rs120074178 |
Varsome | rs120074178 |
LitVar | rs120074178 |
Map | rs120074178 |
PheGenI | rs120074178 |
Biobank | rs120074178 |
1000 genomes | rs120074178 |
hgdp | rs120074178 |
ensembl | rs120074178 |
geneview | rs120074178 |
scholar | rs120074178 |
rs120074178 | |
pharmgkb | rs120074178 |
gwascentral | rs120074178 |
openSNP | rs120074178 |
23andMe | rs120074178 |
SNPshot | rs120074178 |
SNPdbe | rs120074178 |
MSV3d | rs120074178 |
GWAS Ctlg | rs120074178 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs120074178(A;A) rs120074178(C;C) rs120074178(T;T) |
Alt | rs120074178(A;A) rs120074178(C;C) rs120074178(T;T) |
Reference | Rs120074178(G;G) |
Significance | Pathogenic |
Disease | Long QT syndrome 1 Long QT syndrome Congenital long QT syndrome not provided |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome 1 Long QT syndrome Congenital long QT syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.2591949G>A; NC_000011.9:g.2591949G>C; NC_000011.9:g.2591949G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003264.3, RCV000046088.4, RCV000057706.3, RCV000182086.3, RCV000229159.1, RCV000057707.3, RCV000182299.2, |
[PMID 19716085] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
[PMID 20138589] A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters.
[PMID 1467812] Activity-dependent development of spinal cord motor neurons.
[PMID 8528244] Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
[PMID 9386136] KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
[PMID 10728423] Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 11668638] Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis.