Have questions? Visit https://www.reddit.com/r/SNPedia

rs74315445

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315445(A;A)
Make rs74315445(A;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position34449409
GeneKCNE1
is asnp
is mentioned by
dbSNPrs74315445
ebirs74315445
HLIrs74315445
Exacrs74315445
Varsomers74315445
Maprs74315445
PheGenIrs74315445
hapmaprs74315445
1000 genomesrs74315445
hgdprs74315445
ensemblrs74315445
gopubmedrs74315445
geneviewrs74315445
scholarrs74315445
googlers74315445
pharmgkbrs74315445
gwascentralrs74315445
openSNPrs74315445
23andMers74315445
23andMe allrs74315445
SNP Nexus

SNPshotrs74315445
SNPdbers74315445
MSV3drs74315445
GWAS Ctlgrs74315445
Max Magnitude0
OMIM176261
Desc
Variant0003
Relatedalso
ClinVar
Risk rs74315445(A;A)
Alt rs74315445(A;A)
Reference rs74315445(G;G)
Significance Other
Disease Jervell and Lange-Nielsen syndrome 2 Long QT syndrome 5 Congenital long QT syndrome Jervell and Lange-Nielsen syndrome 1 not provided
Variation info
Gene KCNE1
CLNDBN Jervell and Lange-Nielsen syndrome 2 Long QT syndrome 5 Congenital long QT syndrome Jervell and Lange-Nielsen syndrome 1 not provided
Reversed 1
HGVS NC_000021.8:g.35821707C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014419.24, RCV000014420.25, RCV000119080.1, RCV000148512.1, RCV000222568.1,


[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 19716085OA-icon.png] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.