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Gene entry

KCNJ2

potassium inwardly rectifying channel subfamily J member 2

Chromosome
17
Cytoband
17q24.3
Variants (rsID)
16

KCNJ2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q24.3). Its official name is “potassium inwardly rectifying channel subfamily J member 2”. The reference table lists 16 variants (rsID) for this gene.

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Clinically classified variants

16 reference-table entries with clinical significance.

  • rs117409545Benignsingle nucleotide variantAndersen Tawil syndrome|Short QT syndrome type 3|Atrial fibrillation, familial, 9
  • rs141069645Conflicting interpretationssingle nucleotide variantAndersen Tawil syndrome|Short QT syndrome type 3|Atrial fibrillation, familial, 9|Short QT syndrome type 3|Andersen Tawil syndrome|Cardiovascular phenotype
  • rs147750704Conflicting interpretationssingle nucleotide variantAtrial fibrillation, familial, 9|Atrial fibrillation|Short QT syndrome type 3|Andersen Tawil syndrome|Andersen Tawil syndrome|Short QT syndrome type 3
  • rs765064661Conflicting interpretationssingle nucleotide variantAtrial fibrillation, familial, 9|Andersen Tawil syndrome|Short QT syndrome type 3
  • rs786205812Conflicting interpretationssingle nucleotide variantShort QT syndrome type 3|Andersen Tawil syndrome
  • rs199473369Likely pathogenicsingle nucleotide variantCongenital long QT syndrome
  • rs199473381Likely pathogenicsingle nucleotide variantCongenital long QT syndrome
  • rs104894578Pathogenicsingle nucleotide variantAndersen Tawil syndrome|Congenital long QT syndrome|Short QT syndrome type 3|Andersen Tawil syndrome
  • rs104894580Pathogenicsingle nucleotide variantAndersen Tawil syndrome|Congenital long QT syndrome|Atrial fibrillation, familial, 9|Short QT syndrome type 3|Andersen Tawil syndrome|Short QT syndrome type 3|Andersen Tawil syndrome
  • rs199473383Pathogenicsingle nucleotide variantCongenital long QT syndrome|Andersen Tawil syndrome|Andersen Tawil syndrome|Short QT syndrome type 3
  • rs199473389Pathogenicsingle nucleotide variantCongenital long QT syndrome|Andersen Tawil syndrome|Short QT syndrome type 3|Andersen Tawil syndrome
  • rs199473653Pathogenicsingle nucleotide variantCongenital long QT syndrome|Andersen Tawil syndrome|Cardiovascular phenotype|Andersen Tawil syndrome|Short QT syndrome type 3
  • rs144022753Uncertain significancesingle nucleotide variantLong QT syndrome|Cardiovascular phenotype|Andersen Tawil syndrome|Short QT syndrome type 3
  • rs202067116Uncertain significancesingle nucleotide variantVentricular fibrillation|Andersen Tawil syndrome|Short QT syndrome type 3|Andersen Tawil syndrome
  • rs375330016Uncertain significancesingle nucleotide variantAndersen Tawil syndrome|Short QT syndrome type 3
  • rs199473376Not classifiedsingle nucleotide variantCongenital long QT syndrome

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.