Gene entry
CSPP1
centrosome and spindle pole associated protein 1
- Chromosome
- 8
- Cytoband
- 8q13.1-q13.2
- Variants (rsID)
- 19
CSPP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q13.1-q13.2). Its official name is “centrosome and spindle pole associated protein 1”. The reference table lists 19 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs146431326Benignsingle nucleotide variantJoubert syndrome 21
- rs16933182Benignsingle nucleotide variantJoubert syndrome 21
- rs1808140Benignsingle nucleotide variantJoubert syndrome 21
- rs375113643Pathogenicsingle nucleotide variantJoubert syndrome 21
- rs587777141PathogenicDuplicationJoubert syndrome 21
- rs587777143PathogenicDeletionJoubert syndrome 21
- rs886044058Pathogenicsingle nucleotide variantJoubert syndrome 21
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.