{{Rsnum
|rsid=120074196
|Chromosome=11
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=KCNQ1
|position=2572057
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=KCNQ1
}}{{omim
|id=607542
|rsnum=120074196
|variant=0039
}}{{ClinVar
|rsid=120074196
|Reversed=0
|FwdREF=G
|FwdALT=A,C
|REF=G
|ALT=A,C
|RSPOS=2593287
|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.2593287G>A; NC_000011.9:g.2593287G>C
|CLNORIGIN=1
|CLNSRCID=
607542.0039
|CLNSIG=5
|CLNCUI=
|CLNACC=
RCV000046112.2; RCV000057742.1; RCV000003300.1; RCV000046113.2; RCV000046114.2; RCV000057743.1
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDBN=KCNQ1-related Jervell and Lange-Nielsen syndrome; not provided; Long QT syndrome 1/2, digenic; KCNQ1-related acquired long QT syndrome; Long QT syndrome, LQT1 subtype
|CLNDSDB=MedGen
|CLNDSDBID=CN177652; C3150944; CN177653; CN177655
|CLNSRC=OMIM Allelic Variant
|Disease=KCNQ1-related Jervell and Lange-Nielsen syndrome; not provided; Long QT syndrome 1/2; KCNQ1-related acquired long QT syndrome; Long QT syndrome
}}{{PMID Auto
|PMID=16922724
|Title=Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
}}

{{PMID Auto
|PMID=181742
|Title=The nature of the phosphorus linkage in component I, a phosphoprotein isolated from the blood serum of DES-treated cockerels.
}}

{{PMID Auto
|PMID=9482580
|Title=Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.
}}

{{PMID Auto
|PMID=10090886
|Title=Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias.
|OA=1
}}

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

{{PMID Auto
|PMID=11530100
|Title=A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.
}}

{{PMID Auto
|PMID=15028050
|Title=Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome.
}}