CEP83 centrosomal protein 83
Gene ID: 51134, updated on 5-Mar-2024Gene type: protein coding
Also known as: CCDC41; NPHP18; NY-REN-58
- See all available tests in GTR for this gene
- Go to complete Gene record for CEP83
- Go to Variation Viewer for CEP83 variants
Summary
The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Nephronophthisis 18 | See labs |
| TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. GeneReviews: Not available |
Genomic context
- Location:
- 12q22
- Sequence:
- Chromosome: 12; NC_000012.12 (94265662..94460454, complement)
- Total number of exons:
- 30
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CEP83 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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