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Gene entry

PAX4

paired box 4

Chromosome
7
Cytoband
7q32.1
Variants (rsID)
10

PAX4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7q32.1). Its official name is “paired box 4”. The reference table lists 10 variants (rsID) for this gene.

Clinically classified variants

7 reference-table entries with clinical significance.

  • rs115887120Benignsingle nucleotide variantMaturity onset diabetes mellitus in young
  • rs2233580Benignsingle nucleotide variantMaturity onset diabetes mellitus in young|Monogenic diabetes
  • rs3824004Benignsingle nucleotide variantMaturity onset diabetes mellitus in young|Monogenic diabetes
  • rs114202595Conflicting interpretationssingle nucleotide variantType 2 diabetes mellitus|Maturity onset diabetes mellitus in young
  • rs114315130Conflicting interpretationssingle nucleotide variantMaturity onset diabetes mellitus in young
  • rs35155575Conflicting interpretationssingle nucleotide variantDiabetes mellitus, ketosis-prone, susceptibility to
  • rs115923648Uncertain significancesingle nucleotide variantMaturity onset diabetes mellitus in young

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.