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Gene entry

INSR

insulin receptor

Chromosome
19
Cytoband
19p13.2
Variants (rsID)
72

INSR is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19p13.2). Its official name is “insulin receptor”. The reference table lists 72 variants (rsID) for this gene.

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Clinically classified variants

15 reference-table entries with clinical significance.

  • rs1052371Benignsingle nucleotide variantLeprechaunism syndrome|Pineal hyperplasia AND diabetes mellitus syndrome|Insulin-resistant diabetes mellitus AND acanthosis nigricans
  • rs1799817Benignsingle nucleotide variantPineal hyperplasia AND diabetes mellitus syndrome|Leprechaunism syndrome|Insulin-resistant diabetes mellitus AND acanthosis nigricans
  • rs2229431Benignsingle nucleotide variantLeprechaunism syndrome|Pineal hyperplasia AND diabetes mellitus syndrome|Insulin-resistant diabetes mellitus AND acanthosis nigricans
  • rs2860171Benignsingle nucleotide variantLeprechaunism syndrome|Insulin-resistant diabetes mellitus AND acanthosis nigricans|Pineal hyperplasia AND diabetes mellitus syndrome
  • rs2963Benignsingle nucleotide variantPineal hyperplasia AND diabetes mellitus syndrome|Insulin-resistant diabetes mellitus AND acanthosis nigricans|Leprechaunism syndrome
  • rs56066516Benignsingle nucleotide variantPineal hyperplasia AND diabetes mellitus syndrome|Leprechaunism syndrome|Insulin-resistant diabetes mellitus AND acanthosis nigricans
  • rs138528064Conflicting interpretationssingle nucleotide variant
  • rs144836032Conflicting interpretationssingle nucleotide variantInsulin-resistant diabetes mellitus AND acanthosis nigricans|Leprechaunism syndrome|Pineal hyperplasia AND diabetes mellitus syndrome
  • rs146588336Conflicting interpretationssingle nucleotide variantInsulin-resistant diabetes mellitus AND acanthosis nigricans|Pineal hyperplasia AND diabetes mellitus syndrome|Leprechaunism syndrome|Monogenic diabetes
  • rs1799816Conflicting interpretationssingle nucleotide variantType 2 diabetes mellitus|Insulin-resistant diabetes mellitus AND acanthosis nigricans|Monogenic diabetes|Bailey-Bloch congenital myopathy|Pineal hyperplasia AND diabetes mellitus syndrome|Leprechaunism syndrome
  • rs13306449Likely benignsingle nucleotide variantLeprechaunism syndrome|Insulin-resistant diabetes mellitus AND acanthosis nigricans|Pineal hyperplasia AND diabetes mellitus syndrome
  • rs121913145Pathogenicsingle nucleotide variantLeprechaunism syndrome
  • rs121913148Pathogenicsingle nucleotide variantInsulin-resistant diabetes mellitus AND acanthosis nigricans
  • rs121913156Pathogenicsingle nucleotide variantInsulin-resistant diabetes mellitus AND acanthosis nigricans|Hyperinsulinism due to INSR deficiency
  • rs56395521Uncertain significancesingle nucleotide variantInsulin-resistant diabetes mellitus AND acanthosis nigricans|Leprechaunism syndrome|Pineal hyperplasia AND diabetes mellitus syndrome|Hyperinsulinism due to INSR deficiency

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.