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Gene entry

KCNJ11

potassium inwardly rectifying channel subfamily J member 11

Chromosome
11
Cytoband
11p15.1
Variants (rsID)
18

KCNJ11 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11p15.1). Its official name is “potassium inwardly rectifying channel subfamily J member 11”. The reference table lists 18 variants (rsID) for this gene.

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Clinically classified variants

12 reference-table entries with clinical significance.

  • rs5215Benignsingle nucleotide variantDiabetes mellitus, transient neonatal, 3|Maturity-onset diabetes of the young type 13|Hyperinsulinemic hypoglycemia, familial, 2|Permanent neonatal diabetes mellitus|Diabetes mellitus, permanent neonatal 2|Type 2 diabetes mellitus
  • rs104894248Conflicting interpretationssingle nucleotide variantHyperinsulinemic hypoglycemia, familial, 2|Type 2 diabetes mellitus|Maturity onset diabetes mellitus in young
  • rs114215135Conflicting interpretationssingle nucleotide variantHyperinsulinemic hypoglycemia, familial, 2|Maturity-onset diabetes of the young type 13|Diabetes mellitus, transient neonatal, 3|Maturity onset diabetes mellitus in young
  • rs116392938Conflicting interpretationssingle nucleotide variantMaturity-onset diabetes of the young type 13|Hyperinsulinemic hypoglycemia, familial, 2|Diabetes mellitus, transient neonatal, 3|Permanent neonatal diabetes mellitus|Hyperinsulinemia
  • rs193922565Conflicting interpretationssingle nucleotide variantNeonatal diabetes mellitus|Maturity onset diabetes mellitus in young
  • rs193929355Conflicting interpretationssingle nucleotide variantPermanent neonatal diabetes mellitus|Diabetes mellitus|Transitory neonatal diabetes mellitus
  • rs267607196Conflicting interpretationssingle nucleotide variantHyperinsulinemic hypoglycemia, familial, 2|Maturity-onset diabetes of the young type 13|Hyperinsulinemic hypoglycemia, familial, 2|Type 2 diabetes mellitus|Permanent neonatal diabetes mellitus|Diabetes mellitus, transient neonatal, 3|Maturity onset diabetes mellitus in young
  • rs28936678Conflicting interpretationssingle nucleotide variantHyperinsulinemic hypoglycemia, familial, 2|Maturity onset diabetes mellitus in young
  • rs41282930Conflicting interpretationssingle nucleotide variantNeonatal diabetes mellitus|Diabetes mellitus, transient neonatal, 3|Maturity-onset diabetes of the young type 13|Hyperinsulinemic hypoglycemia, familial, 2|Monogenic diabetes|Maturity onset diabetes mellitus in young
  • rs80356616Conflicting interpretationssingle nucleotide variantDiabetes mellitus, permanent neonatal 2|Permanent neonatal diabetes mellitus|Neonatal insulin-dependent diabetes mellitus|Transitory neonatal diabetes mellitus|Neonatal diabetes mellitus
  • rs80356625Conflicting interpretationssingle nucleotide variantPermanent neonatal diabetes mellitus|Diabetes mellitus|Diabetes mellitus, permanent neonatal 2|Diabetes mellitus, transient neonatal, 3|Transitory neonatal diabetes mellitus|Neonatal diabetes mellitus|Maturity onset diabetes mellitus in young
  • rs193929356Pathogenicsingle nucleotide variantPermanent neonatal diabetes mellitus|Neonatal insulin-dependent diabetes mellitus|Type 2 diabetes mellitus

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.