Gene entry
INPP5E
inositol polyphosphate-5-phosphatase E
- Chromosome
- 9
- Cytoband
- 9q34.3
- Variants (rsID)
- 7
INPP5E is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q34.3). Its official name is “inositol polyphosphate-5-phosphatase E”. The reference table lists 7 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs10870182Benignsingle nucleotide variantJoubert syndrome|Joubert syndrome 1|MORM syndrome
- rs181576122Benignsingle nucleotide variantJoubert syndrome 1|Joubert syndrome
- rs554931078Likely benignsingle nucleotide variantJoubert syndrome 1
- rs121918128Pathogenicsingle nucleotide variantJoubert syndrome 1
- rs121918129Pathogenicsingle nucleotide variantJoubert syndrome 1|Joubert syndrome|Retinal dystrophy
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.