{{Rsnum
|rsid=74315445
|Chromosome=21
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=KCNE1
|position=34449409
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=KCNE1
}}{{omim
|id=176261
|rsnum=74315445
|variant=0003
}}{{ClinVar
|rsid=74315445
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=35821707
|CHROM=21
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=KCNE1:3753
|GENE_NAME=KCNE1
|GENE_ID=3753
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000021.8:g.35821707C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=176261.0003
|CLNSIG=5
|CLNCUI=C2676723; C1867904
|CLNDBN=Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5; not provided
|Disease=Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5; not provided
|CLNACC=RCV000014419.23; RCV000014420.23; RCV000057852.1
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet; GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1405:C2676723:612347:768:90647; NBK1129:C1867904:613695:101016
}}{{PMID|9354783}} KCNE1 mutations cause jervell and Lange-Nielsen syndrome.

{{PMID|9354802}} Mutations in the hminK gene cause long QT syndrome and suppress IKs function.

{{PMID|9445165}} Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.

{{PMID|15840476}} Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

{{PMID|16818210}} Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing.

{{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.