Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

PGAP1

post-GPI attachment to proteins inositol deacylase 1

Chromosome
2
Cytoband
2q33.1
Variants (rsID)
7

PGAP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q33.1). Its official name is “post-GPI attachment to proteins inositol deacylase 1”. The reference table lists 7 variants (rsID) for this gene.

Clinically classified variants

1 reference-table entries with clinical significance.

  • rs869025579PathogenicDeletionIntellectual disability, autosomal recessive 42|Cerebral visual impairment and intellectual disability

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.