PCDH15 gene homepage


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
General information
Gene symbol PCDH15
Gene name protocadherin-related 15
Chromosome 10
Chromosomal band q21.1
Imprinted Unknown
Genomic reference NG_009191.3
Transcript reference NM_001142769.1, NM_033056.3
Exon/intron information NM_033056.3 exon/intron table
Associated with diseases DFN, DFNB, DFNB-23, USH, USH-1, USH-1F
Citation reference(s) Bonnet 2016
Refseq URL Genomic reference sequence
Curators (1) David Baux
Total number of public variants reported 836
Unique public DNA variants reported 282
Individuals with public variants 250
Hidden variants 138
Download all this gene's data Download all data
Notes The database is curated by the Montpellier Usher group.
You can directly access the PCDH15 database using: www.LOVD.nl/PCDH15
If you wish to perform particular analyses, please do not hesitate to contact us. We hope that you will find these databases useful!
This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 02, 2010
Date last updated February 16, 2019
Version PCDH15:190216

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_033056.3.
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/PCDH15
External URL Orphanet
KMeyeDB
USMA (Usher Syndrome Missense Analysis)
Deafness Variation Database
MoBiDiC
HGNC 14674
Entrez Gene 65217
PubMed articles PCDH15
OMIM - Gene 605514
OMIM - Diseases DFNB-23 (deafness, autosomal recessive, type 23 (DFNB-23))
USH-1F (Usher syndrome, type 1F (USH-1F))
HGMD PCDH15
GeneCards PCDH15
GeneTests PCDH15


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00015744 10 transcript variant C NM_033056.3 NP_149045.3 824
00025299 10 transcript variant I NM_001142769.1 NP_001136241.1 123


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2019. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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.