Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

IMPG2

interphotoreceptor matrix proteoglycan 2

Chromosome
3
Cytoband
3q12.3
Variants (rsID)
15

IMPG2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q12.3). Its official name is “interphotoreceptor matrix proteoglycan 2”. The reference table lists 15 variants (rsID) for this gene.

Clinically classified variants

9 reference-table entries with clinical significance.

  • rs533852Benignsingle nucleotide variantRetinitis pigmentosa
  • rs571391Benignsingle nucleotide variantRetinitis pigmentosa|Vitelliform macular dystrophy 5|Retinitis pigmentosa 56
  • rs111784356Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa
  • rs116450347Conflicting interpretationssingle nucleotide variantRetinitis pigmentosa
  • rs199867882Pathogenicsingle nucleotide variantRetinitis pigmentosa|Retinal dystrophy|Autosomal recessive retinitis pigmentosa|Vitelliform macular dystrophy 5
  • rs143635399Uncertain significancesingle nucleotide variantRetinitis pigmentosa
  • rs149896250Uncertain significancesingle nucleotide variantRetinitis pigmentosa
  • rs201893545Uncertain significancesingle nucleotide variantVitelliform macular dystrophy 5|Retinitis pigmentosa
  • rs76048775Uncertain significancesingle nucleotide variantRetinitis pigmentosa

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.