Gene entry
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
- Chromosome
- 5
- Cytoband
- 5q13.1
- Variants (rsID)
- 25
PIK3R1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q13.1). Its official name is “phosphoinositide-3-kinase regulatory subunit 1”. The reference table lists 25 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs3730089Benignsingle nucleotide variantImmunodeficiency 36|Agammaglobulinemia 7, autosomal recessive|SHORT syndrome
- rs587777709Pathogenicsingle nucleotide variantImmunodeficiency 36|SHORT syndrome|Agammaglobulinemia 7, autosomal recessive|Immunodeficiency 36
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.