{{Rsnum
|rsid=120074186
|Chromosome=11
|Orientation=plus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=KCNQ1
|position=2572979
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=KCNQ1
}}{{omim
|id=607542
|rsnum=120074186
|variant=0016
}}{{ClinVar
|rsid=120074186
|Reversed=0
|FwdREF=G
|FwdALT=A,C
|REF=G
|ALT=A,C
|RSPOS=2594209
|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.2594209G>A; NC_000011.9:g.2594209G>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=607542.0016
|CLNSIG=5
|CLNCUI=C0022387
|CLNDBN=Long QT syndrome, LQT1 subtype; Jervell and Lange-Nielsen syndrome; KCNQ1-related Jervell and Lange-Nielsen syndrome; not provided
|Disease=Long QT syndrome; Jervell and Lange-Nielsen syndrome; KCNQ1-related Jervell and Lange-Nielsen syndrome; not provided
|CLNACC=RCV000046150.2; RCV000003275.1; RCV000046151.2; RCV000057796.1
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=MedGen; GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=CN177655; NBK1405:C0022387:220400:768:90647:373905003; CN177652
}}{{PMID Auto
|PMID=9781056
|Title=Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in 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=15840476
|Title=Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
}}

{{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
}}