{{Rsnum
|rsid=120074177
|Chromosome=11
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=KCNQ1
|position=2570682
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=KCNQ1
}}{{omim
|id=607542
|rsnum=120074177
|variant=0002
}}{{ClinVar
|rsid=120074177
|Reversed=0
|FwdREF=G
|FwdALT=A,C
|REF=G
|ALT=A,C
|RSPOS=2591912
|CHROM=11
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=KCNQ1:3784
|GENE_NAME=KCNQ1
|GENE_ID=3784
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000011.9:g.2591912G>A; NC_000011.9:g.2591912G>C
|CLNORIGIN=1
|CLNSRCID=
607542.0002
|CLNSIG=5
|CLNCUI=
|CLNACC=
RCV000046075.2; RCV000057692.1; RCV000003260.1; RCV000046076.2; RCV000057693.1
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDBN=Long QT syndrome, LQT1 subtype; not provided; Long QT syndrome 1
|CLNDSDB=MedGen; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=CN177655; NBK1129:NBK1405:C0035828:192500:101016:20852007
|CLNSRC=OMIM Allelic Variant
|Disease=Long QT syndrome; not provided; Long QT syndrome 1
}}{{PMID|8528244}} Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.

{{PMID|9323054}} Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.

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

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

{{PMID|9024139}} Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.

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