PCNT gene homepage

General information
Gene symbol PCNT
Gene name pericentrin
Chromosome 21
Chromosomal band q22.3
Imprinted Unknown
Genomic reference NG_008961.1
Transcript reference NM_006031.5
Exon/intron information NM_006031.5 exon/intron table
Associated with diseases ID, MOPD, MOPD-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 396
Unique public DNA variants reported 316
Individuals with public variants 19
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 March 31, 2010
Date last updated August 08, 2017
Version PCNT:170808

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_006031.5.
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/PCNT
External URL Orphanet
HGNC 16068
Entrez Gene 5116
PubMed articles PCNT
OMIM - Gene 605925
OMIM - Diseases MOPD-2 (dwarfism, primordial, osteodysplastic, microcephalic type II (MOPD-2))
GeneCards PCNT
GeneTests PCNT

Active transcripts




NCBI ID     

NCBI Protein ID     

00015829 21 pericentrin NM_006031.5 NP_006022.3 396

Copyright & disclaimer
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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.