CSPP1 gene homepage

General information
Gene symbol CSPP1
Gene name centrosome and spindle pole associated protein 1
Chromosome 8
Chromosomal band q13.2
Imprinted Unknown
Genomic reference NC_000008.10
Transcript reference NM_024790.6
Exon/intron information NM_024790.6 exon/intron table
Associated with diseases JBTS-21
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 89
Unique public DNA variants reported 72
Individuals with public variants 237
Hidden variants 7
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 March 23, 2020
Version CSPP1:200323

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_024790.6.
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 http://www.LOVD.nl/CSPP1
HGNC 26193
Entrez Gene 79848
PubMed articles CSPP1
OMIM - Gene 611654
OMIM - Diseases JBTS-21 (Joubert syndrome, type 21 (JBTS-21))
HGMD CSPP1
GeneCards CSPP1
GeneTests CSPP1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005773 8 centrosome and spindle pole associated protein 1 NM_024790.6 NP_079066.5 89


Copyright & disclaimer
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