Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

OPHN1

oligophrenin 1

Chromosome
X
Cytoband
Xq12
Variants (rsID)
60

OPHN1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq12). Its official name is “oligophrenin 1”. The reference table lists 60 variants (rsID) for this gene.

Clinically classified variants

4 reference-table entries with clinical significance.

  • rs3788859Benignsingle nucleotide variant
  • rs41303733Benignsingle nucleotide variantHistory of neurodevelopmental disorder
  • rs143713841Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|See cases
  • rs368803937Conflicting interpretationssingle nucleotide variant

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.