The CEP250 gene homepage

General information
Gene symbol CEP250
Gene name centrosomal protein 250kDa
Chromosome 20
Chromosomal band q11.22
Imprinted Unknown
Genomic reference NG_051604.1
Transcript reference NM_007186.3
Exon/intron information NM_007186.3 exon/intron table
Associated with diseases CRDHL2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 103
Unique public DNA variants reported 86
Individuals with public variants 20
Hidden variants 1
Download all this gene's data Download all data
Notes 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 February 26, 2024
Version CEP250:240226

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_007186.3.
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 https://www.LOVD.nl/CEP250
HGNC 1859
Entrez Gene 11190
PubMed articles CEP250
OMIM - Gene 609689
OMIM - Diseases CRDHL2 (dystrophy, cone-rod, and hearing loss, type 2 (CRDHL2))
HGMD CEP250
GeneCards CEP250
GeneTests CEP250
Orphanet CEP250


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005003 20 centrosomal protein 250kDa NM_007186.3 NP_009117.2 103


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