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rs12720459

From SNPedia

Long QT syndrome
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A)
(C;C) 0 common in clinvar
(C;T) 5 LQT1 form of Long QT syndrome
(T;T) 5 LQT1 form of Long QT syndrome
ReferenceGRCh38 38.1/141
Chromosome11
Position2583535
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs12720459
ebirs12720459
HLIrs12720459
Exacrs12720459
Varsomers12720459
Maprs12720459
PheGenIrs12720459
hapmaprs12720459
1000 genomesrs12720459
hgdprs12720459
ensemblrs12720459
gopubmedrs12720459
geneviewrs12720459
scholarrs12720459
googlers12720459
pharmgkbrs12720459
gwascentralrs12720459
openSNPrs12720459
23andMers12720459
23andMe allrs12720459
SNP Nexus

SNPshotrs12720459
SNPdbers12720459
MSV3drs12720459
GWAS Ctlgrs12720459
StatusDeleted
Max Magnitude5
rs12720459, known also as Ala341Val and formerly as Ala212Val and Ala246Val, is a SNP in the potassium voltage-gated channel, KQT-like subfamily, member 1 KCNQ1 gene.

This SNP, specifically rs12720459(T), represents one of the most common mutations within the KCNQ1 gene leading to LQT1, the most common form of Long QT syndrome. LQT1 is one of the less severe forms of Long QT syndrome.

see OMIM 607542.0010

? (C;C) (C;T) (T;T) 28
OMIM607542
DescLONG QT SYNDROME 1
Variant0010
Relatedalso
OMIM607542
Desc
Variant0009
Relatedalso


ClinVar
Risk rs12720459(A,G,T;A,G,T)
Alt rs12720459(A,G,T;A,G,T)
Reference rs12720459(C;C)
Significance Other
Disease Long QT syndrome 1 Long QT syndrome 1/2 Long QT syndrome Congenital long QT syndrome not provided Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome 1 Long QT syndrome 1/2, digenic Long QT syndrome Congenital long QT syndrome not provided Long QT syndrome, LQT1 subtype
Reversed 0
HGVS NC_000011.9:g.2604765C>A; NC_000011.9:g.2604765C>G; NC_000011.9:g.2604765C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003267.2, RCV000003268.2, RCV000045932.3, RCV000057526.2, RCV000182154.1, RCV000057527.2, RCV000182145.2, RCV000003269.2, RCV000045933.2, RCV000057528.3, RCV000171124.1,



[PMID 19214780OA-icon.png] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).


[PMID 8528244] Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.


[PMID 8818942OA-icon.png] Evidence of a long QT founder gene with varying phenotypic expression in South African families.


[PMID 8872472] KVLQT1 mutations in three families with familial or sporadic long QT syndrome.


[PMID 9386136] KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.


[PMID 9570196] New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.


[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.


[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 179843] Plasticity of the hormone receptors and possibility of their deformation in neonatal age.


[PMID 10086971] C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.


[PMID 12702160OA-icon.png] KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.


[PMID 14678125] Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.