Gene entry
KCNE1
potassium voltage-gated channel subfamily E regulatory subunit 1
- Chromosome
- 21
- Cytoband
- 21q22.12
- Variants (rsID)
- 28
KCNE1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 21 (region 21q22.12). Its official name is “potassium voltage-gated channel subfamily E regulatory subunit 1”. The reference table lists 28 variants (rsID) for this gene.
Clinically classified variants
14 reference-table entries with clinical significance.
- rs11700621Benignsingle nucleotide variantJervell and Lange-Nielsen syndrome 2|Congenital long QT syndrome|Long QT syndrome 5
- rs13050198Benignsingle nucleotide variantLong QT syndrome 5|Jervell and Lange-Nielsen syndrome 2|Congenital long QT syndrome
- rs1805127Benignsingle nucleotide variantNoise induced hearing loss|Cardiovascular phenotype|Jervell and Lange-Nielsen syndrome 2|Congenital long QT syndrome|Long QT syndrome|Long QT syndrome 5
- rs2834485Benignsingle nucleotide variantLong QT syndrome 5|Jervell and Lange-Nielsen syndrome 2|Congenital long QT syndrome
- rs3453Benignsingle nucleotide variantCongenital long QT syndrome|Jervell and Lange-Nielsen syndrome 2|Long QT syndrome 5
- rs41312993Benignsingle nucleotide variantJervell and Lange-Nielsen syndrome 2|Long QT syndrome 5|Congenital long QT syndrome
- rs142511345Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Jervell and Lange-Nielsen syndrome 2|Cardiovascular phenotype|Long QT syndrome 5
- rs144917638Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Cardiovascular phenotype|Jervell and Lange-Nielsen syndrome 2
- rs199473362Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 5
- rs74315445Conflicting interpretationssingle nucleotide variantJervell and Lange-Nielsen syndrome 2|Long QT syndrome 5|Congenital long QT syndrome|Jervell and Lange-Nielsen syndrome 1|Cardiovascular phenotype|Long QT syndrome|Arrhythmogenic right ventricular cardiomyopathy|Brugada syndrome|Sudden unexplained death|Jervell and Lange-Nielsen syndrome
- rs141813529Uncertain significancesingle nucleotide variantCongenital long QT syndrome
- rs147187721Uncertain significancesingle nucleotide variantCongenital long QT syndrome
- rs74315446Uncertain significancesingle nucleotide variantLong QT syndrome 5|Congenital long QT syndrome|Long QT syndrome
- rs79654911Uncertain significancesingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Cardiovascular phenotype|Jervell and Lange-Nielsen syndrome 2
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.