{{Rsnum
|rsid=12720459
|Gene=KCNQ1
|Chromosome=11
|position=2583535
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|Status=Deleted
|Summary=Long QT syndrome
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=KCNQ1
}}[[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 [http://omim.org/entry/607542#0010 607542.0010]

{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 99.1 | 0.9 | 0.0
| HCB | 99.3 | 0.7 | 0.0
| JPT | 99.1 | 0.9 | 0.0
| YRI | 99.3 | 0.7 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 99.3 | 0.7 | 0.0
| CHD | 99.1 | 0.9 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 98.2 | 1.8 | 0.0
| MEX | 96.6 | 3.4 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{omim
|desc=LONG QT SYNDROME 1
|id=607542
|rsnum=12720459
|variant=0010
}}

{{omim
|id=607542
|rsnum=12720459
|variant=0009
}}

{{ClinVar
|rsid=12720459
|Reversed=0
|FwdREF=C
|FwdALT=A,G,T
|REF=C
|ALT=A,G,T
|RSPOS=2604765
|CHROM=11
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x050378000000040503110104
|GENEINFO=KCNQ1:3784
|GENE_NAME=KCNQ1
|GENE_ID=3784
|WGT=0
|VC=SNV
|CLNALLE=1; 2; 3
|CLNHGVS=NC_000011.9:g.2604765C>A; NC_000011.9:g.2604765C>G; NC_000011.9:g.2604765C>T
|CLNORIGIN=1
|CLNSRCID=
607542.0009; 607542.0010
|CLNSIG=5
|CLNCUI=
|CLNACC=
RCV000003267.1; RCV000003268.1; RCV000045932.2; RCV000057526.1; RCV000057527.1; RCV000003269.1; RCV000045933.2; RCV000057528.1
|Tags=PM;TPA;PMC;S3D;SLO;VLD;HD;GNO;OTHERKG;PH3;LSD;OM;NOV
|CLNDBN=Long QT syndrome 1; Long QT syndrome 1/2, digenic; Long QT syndrome, LQT1 subtype; not provided
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
|CLNDSDBID=NBK1129:NBK1405:C0035828:192500:101016:20852007; C3150944; CN177655
|CLNSRC=OMIM Allelic Variant
|Disease=Long QT syndrome 1; Long QT syndrome 1/2; Long QT syndrome; not provided
}}

{{PMID Auto
|PMID=19214780
|Title=In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
|OA=1
}}

{{PMID Auto
|PMID=8528244
|Title=Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
}}

{{PMID Auto
|PMID=8818942
|Title=Evidence of a long QT founder gene with varying phenotypic expression in South African families.
|OA=1
}}

{{PMID Auto
|PMID=8872472
|Title=KVLQT1 mutations in three families with familial or sporadic long QT syndrome.
}}

{{PMID Auto
|PMID=9386136
|Title=KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
}}

{{PMID Auto
|PMID=9570196
|Title=New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.
}}

{{PMID Auto
|PMID=10973849
|Title=Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
}}

{{PMID Auto
|PMID=19716085
|Title=Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
|OA=1
}}

{{PMID Auto
|PMID=179843
|Title=Plasticity of the hormone receptors and possibility of their deformation in neonatal age.
}}

{{PMID Auto
|PMID=10086971
|Title=C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.
}}

{{PMID Auto
|PMID=12702160
|Title=KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.
|OA=1
}}

{{PMID Auto
|PMID=14678125
|Title=Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
}}

{{on chip | Illumina Human 1M}}