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rs120074178

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074178(A;A)
Make rs120074178(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2570719
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs120074178
ebirs120074178
HLIrs120074178
Exacrs120074178
Varsomers120074178
Maprs120074178
PheGenIrs120074178
hapmaprs120074178
1000 genomesrs120074178
hgdprs120074178
ensemblrs120074178
gopubmedrs120074178
geneviewrs120074178
scholarrs120074178
googlers120074178
pharmgkbrs120074178
gwascentralrs120074178
openSNPrs120074178
23andMers120074178
23andMe allrs120074178
SNP Nexus

SNPshotrs120074178
SNPdbers120074178
MSV3drs120074178
GWAS Ctlgrs120074178
Max Magnitude0
OMIM607542
Desc
Variant0004
Relatedalso
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, RCV000046088.3, RCV000057706.3, RCV000182086.2, RCV000229159.1, RCV000057707.3, RCV000182299.1,


[PMID 19716085OA-icon.png] 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.