{{Rsnum
|rsid = 17215500
|Status = Deleted
|Orientation=plus
|ReferenceAllele=C
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Chromosome=11
|position=2768881
|Gene=KCNQ1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=KCNQ1
}}{{omim
|desc=LONG QT SYNDROME 1, RECESSIVE
|id=607542
|rsnum=17215500
|variant=0020
}}{{ClinVar
|rsid=17215500
|Reversed=0
|FwdREF=C
|FwdALT=G,T
|REF=C
|ALT=G,T
|RSPOS=2790111
|CHROM=11
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x050178000000000002110100
|GENEINFO=KCNQ1:3784
|GENE_NAME=KCNQ1
|GENE_ID=3784
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000011.9:g.2790111C>G; NC_000011.9:g.2790111C>T
|CLNORIGIN=1
|CLNSRCID=
607542.0020
|CLNSIG=5
|CLNCUI=
|CLNACC=
RCV000045995.2; RCV000057592.1; RCV000003279.1; RCV000045996.2; RCV000045997.2
|Tags=PM;TPA;PMC;SLO;OTHERKG;LSD;OM
|CLNDBN=Long QT syndrome, LQT1 subtype; not provided; Long QT syndrome 1, recessive; KCNQ1-related Jervell and Lange-Nielsen syndrome
|CLNDSDB=MedGen
|CLNDSDBID=CN177655; CN177652
|CLNSRC=OMIM Allelic Variant
|Disease=Long QT syndrome; not provided; Long QT syndrome 1; KCNQ1-related Jervell and Lange-Nielsen syndrome
}}{{PMID Auto
|PMID=18852891
|Title=Distribution and effects of nonsense polymorphisms in human genes.
|OA=1
}}

{{PMID Auto
|PMID=16414944
|Title=Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
}}