Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

PDX1

pancreatic and duodenal homeobox 1

Chromosome
13
Cytoband
13q12.2
Variants (rsID)
11

PDX1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 13 (region 13q12.2). Its official name is “pancreatic and duodenal homeobox 1”. The reference table lists 11 variants (rsID) for this gene.

Clinically classified variants

9 reference-table entries with clinical significance.

  • rs137852787Conflicting interpretationssingle nucleotide variantMaturity-onset diabetes of the young type 4|Monogenic diabetes|Type 2 diabetes mellitus
  • rs192902098Conflicting interpretationssingle nucleotide variantMaturity-onset diabetes of the young type 4|Monogenic diabetes|Type 2 diabetes mellitus
  • rs193922351Conflicting interpretationssingle nucleotide variantMaturity-onset diabetes of the young type 4
  • rs199644078Conflicting interpretationssingle nucleotide variantMonogenic diabetes|Maturity-onset diabetes of the young type 4|Pancreatic hypoplasia
  • rs75498935Conflicting interpretationssingle nucleotide variantMaturity-onset diabetes of the young type 4
  • rs193922355Likely pathogenicsingle nucleotide variantMaturity-onset diabetes of the young type 4
  • rs193922356Likely pathogenicsingle nucleotide variantMaturity-onset diabetes of the young type 4
  • rs193922360Likely pathogenicsingle nucleotide variantMaturity-onset diabetes of the young type 4
  • rs137852785Uncertain significancesingle nucleotide variantType 2 diabetes mellitus|Diabetes mellitus type 2, susceptibility to

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.