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CEP290 - centrosomal protein 290
- Synonym(s) : 3H11Ag, Bardet-Biedl syndrome 14, BBS14, cancer/testis antigen 87, CT87, FLJ13615, JBTS5, Joubert syndrome 5, KIAA0373, LCA10, Meckel syndrome, type 4, MKS4, nephrocystin-6, NPHP6, POC3, POC3 centriolar protein homolog (Chlamydomonas), rd16, SLSN6
- Previous symbols and names : centrosomal protein 290kDa
- Type : gene with protein product
- Chromosomal location : 12q21.32
- OMIM: 610142
- HGNC: 29021
- UniProtKB: O15078
- Genatlas: CEP290
- GenCC: CEP290
- Ensembl: ENSG00000198707
- IUPHAR-DB: -
- Reactome: O15078
- LOVD: CEP290
Diseases list
- Disease-causing germline mutation(s) in Bardet-Biedl syndrome
ORPHA:110 
- Disease-causing germline mutation(s) in Joubert syndrome with oculorenal defect
ORPHA:2318 - Disease-causing germline mutation(s) in Leber congenital amaurosis
ORPHA:65 - Disease-causing germline mutation(s) in Meckel syndrome
ORPHA:564 - Disease-causing germline mutation(s) in Senior-Loken syndrome
ORPHA:3156
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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