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Gene entry

HNF1A

HNF1 homeobox A

Chromosome
12
Cytoband
12q24.31
Variants (rsID)
40

HNF1A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q24.31). Its official name is “HNF1 homeobox A”. The reference table lists 40 variants (rsID) for this gene.

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Clinically classified variants

26 reference-table entries with clinical significance.

  • rs115080759Benignsingle nucleotide variantMonogenic diabetes|Maturity-onset diabetes of the young type 3
  • rs1169288Benignsingle nucleotide variantInsulin resistance, susceptibility to|SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF|Maturity-onset diabetes of the young type 3|Type 2 diabetes mellitus
  • rs1169310Benignsingle nucleotide variantMaturity-onset diabetes of the young type 3|Type 2 diabetes mellitus
  • rs1800574Benignsingle nucleotide variantMaturity-onset diabetes of the young type 3|Monogenic diabetes|Maturity onset diabetes mellitus in young
  • rs193922584Benignsingle nucleotide variantMaturity-onset diabetes of the young type 3
  • rs140491072Conflicting interpretationssingle nucleotide variantMaturity-onset diabetes of the young type 3|Monogenic diabetes
  • rs150513055Conflicting interpretationssingle nucleotide variantMaturity-onset diabetes of the young type 3|Monogenic diabetes
  • rs193922580Conflicting interpretationssingle nucleotide variantMaturity-onset diabetes of the young type 3|Monogenic diabetes
  • rs193922585Conflicting interpretationssingle nucleotide variantMaturity-onset diabetes of the young type 3|Type 1 diabetes mellitus 20
  • rs193922586Conflicting interpretationssingle nucleotide variantMaturity-onset diabetes of the young type 3
  • rs193922589Conflicting interpretationssingle nucleotide variantMaturity-onset diabetes of the young type 3|Monogenic diabetes
  • rs193922587Likely benignsingle nucleotide variantMaturity-onset diabetes of the young type 3|Monogenic diabetes
  • rs193922600Likely pathogenicsingle nucleotide variantMaturity-onset diabetes of the young type 3|Monogenic diabetes
  • rs193922604Likely pathogenicsingle nucleotide variantMaturity-onset diabetes of the young type 3|Monogenic diabetes
  • rs193922605Likely pathogenicsingle nucleotide variantMaturity-onset diabetes of the young type 3|Monogenic diabetes
  • rs386134267Likely pathogenicDeletionMaturity-onset diabetes of the young type 3|Monogenic diabetes
  • rs137853238Pathogenicsingle nucleotide variantType 1 diabetes mellitus 20|Monogenic diabetes|Maturity onset diabetes mellitus in young|Maturity-onset diabetes of the young type 3
  • rs137853244Pathogenicsingle nucleotide variantMaturity-onset diabetes of the young type 3|Monogenic diabetes
  • rs137853245Pathogenicsingle nucleotide variantMaturity-onset diabetes of the young type 3|Monogenic diabetes|Hyperinsulinism due to HNF1A deficiency
  • rs193922598Pathogenicsingle nucleotide variantMaturity onset diabetes mellitus in young|Monogenic diabetes|Maturity-onset diabetes of the young type 3
  • rs587780357Pathogenicsingle nucleotide variantDiabetes mellitus type 1|Monogenic diabetes|Maturity-onset diabetes of the young type 3
  • rs193922577Uncertain significancesingle nucleotide variantMaturity-onset diabetes of the young type 3|Monogenic diabetes
  • rs193922593Uncertain significancesingle nucleotide variantMaturity-onset diabetes of the young type 3|Monogenic diabetes
  • rs193922597Uncertain significancesingle nucleotide variantMaturity-onset diabetes of the young type 3|Monogenic diabetes
  • rs193922602Uncertain significancesingle nucleotide variantMaturity-onset diabetes of the young type 3|Monogenic diabetes
  • rs193922603Uncertain significancesingle nucleotide variantMaturity-onset diabetes of the young type 3|Monogenic diabetes

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.