The CEP83 gene homepage

General information
Gene symbol CEP83
Gene name centrosomal protein 83kDa
Chromosome 12
Chromosomal band q22
Imprinted Unknown
Genomic reference NC_000012.11
Transcript reference NM_016122.2
Associated with diseases NPHP18
Citation reference(s) -
Curators (1) Johan den Dunnen
Total number of public variants reported 36
Unique public DNA variants reported 28
Individuals with public variants 9
Hidden variants 3
Download all this gene's data Download all data
Notes alias: CCDC41
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated May 09, 2022
Version CEP83:220509

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 17966
Entrez Gene 51134
PubMed articles CEP83
OMIM - Gene 615847
OMIM - Diseases NPHP18 (nephronophthisis, type 18 (NPHP-18))
GeneCards CEP83
GeneTests CEP83
Orphanet CEP83

Active transcripts




NCBI ID     

NCBI Protein ID     

00023948 12 coiled-coil domain containing 41, transcript variant 1 NM_016122.2 NP_057206.2 36

Copyright & disclaimer
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