present in Gene: KCNE1
present in Chromosome: 21
Position on Chromosome: 34449622
Alleles of this Variant: -/A
rs1131691762 in
KCNE1 gene and
Long QT Syndrome
PMID 24606995 2014 Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
PMID 24400172 2013 Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition.
PMID 9354802 1997 Mutations in the hminK gene cause long QT syndrome and suppress IKs function.