PDZD7 gene homepage

This database is one of the ”Retinal and hearing impairment genetic variant databases”.
General information
Gene symbol PDZD7
Gene name PDZ domain containing 7
Chromosome 10
Chromosomal band q24.32
Imprinted Unknown
Genomic reference NG_028030.1
Transcript reference NM_001195263.1
Exon/intron information NM_001195263.1 exon/intron table
Associated with diseases USH-2A, USH-2C
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) David Baux
Total number of public variants reported 127
Unique public DNA variants reported 87
Individuals with public variants 361
Hidden variants 7
Download all this gene's data Download all data
Notes The database is curated by the Montpellier Usher group.
You can directly access the PDZD7 database using: www.LOVD.nl/PDZD7
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 February 19, 2013
Date last updated June 29, 2020
Version PDZD7:200629

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_001195263.1.
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/PDZD7
External URL Orphanet
Deafness Variation Database
HGNC 26257
Entrez Gene 79955
PubMed articles PDZD7
OMIM - Gene 612971
OMIM - Diseases USH-2A (Usher syndrome, type 2A (USH-2A))
USH-2C (Usher syndrome, type IIC (USH-2C, GPR98/PDZD7 digenic))
GeneCards PDZD7
GeneTests PDZD7

Active transcripts




NCBI ID     

NCBI Protein ID     

00024123 10 transcript variant 1 NM_001195263.1 NP_001182192.1 127

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 © 2013-2020. 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.