{{Rsnum
|rsid=74315446
|Gene=KCNE1
|Chromosome=21
|position=34449414
|Orientation=minus
|GMAF=0.0004591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=KCNE1
}}{{omim
|id=176261
|rsnum=74315446
|variant=0004
}}{{ClinVar
|rsid=74315446
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=35821712
|CHROM=21
|GMAF=0.0005
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050368000000000016110100
|GENEINFO=KCNE1:3753
|GENE_NAME=KCNE1
|GENE_ID=3753
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000021.8:g.35821712G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=176261.0004
|CLNSIG=5
|CLNCUI=C1867904
|CLNDBN=Long QT syndrome 5; not provided
|Disease=Long QT syndrome 5; not provided
|CLNACC=RCV000014421.24; RCV000057851.1
|Tags=RV;PM;PMC;S3D;SLO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1129:C1867904:613695:101016
|COMMON=0
}}{{PMID|9354802}} Mutations in the hminK gene cause long QT syndrome and suppress IKs function.

{{PMID|15051636}} Compound mutations: a common cause of severe long-QT syndrome.

{{PMID|19907016|OA=1
}} Mechanisms of disease pathogenesis in long QT syndrome type 5.