Gene entry
CEP120
centrosomal protein 120
- Chromosome
- 5
- Cytoband
- 5q23.2
- Variants (rsID)
- 14
CEP120 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q23.2). Its official name is “centrosomal protein 120”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs114280473Benignsingle nucleotide variantShort-rib thoracic dysplasia 13 with or without polydactyly|Joubert syndrome 31
- rs200983311Uncertain significancesingle nucleotide variantShort-rib thoracic dysplasia 13 with or without polydactyly
- rs6595440Not classifiedmissense_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.