{{Rsnum
|rsid=199473479
|Chromosome=11
|position=2768888
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=KCNQ1
|Gene_s=KCNQ1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Orientation=plus
}}{{ClinVar
|ALT=G
|CHROM=11
|CLNACC=RCV000045999.2; RCV000057597.1
|CLNALLE=1
|CLNDBN=Long QT syndrome, LQT1 subtype; not provided
|CLNDSDB=MedGen
|CLNDSDBID=CN177655
|CLNHGVS=NC_000011.9:g.2790118T>G
|CLNORIGIN=1
|CLNSIG=1
|Disease=Long QT syndrome; not provided
|FwdALT=G
|FwdREF=T
|GENEINFO=KCNQ1:3784
|GENE_ID=3784
|GENE_NAME=KCNQ1
|REF=T
|RSPOS=2790118
|Reversed=0
|SAO=1
|SSR=0
|Tags=PM;PMC;SLO;OTHERKG;LSD
|VC=SNV
|VP=0x050168000000000002100100
|WGT=0
|dbSNPBuildID=136
|rsid=199473479
}}{{PMID Auto
|PMID=17482572
|Title=The novel C-terminal KCNQ1 mutation M520R alters protein trafficking.
}}

{{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=19841300
|Title=Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
|OA=1
}}