WDR19 gene homepage

Part of the "Eye disease databases"
General information
Gene symbol WDR19
Gene name WD repeat domain 19
Chromosome 4
Chromosomal band p14
Imprinted Unknown
Genomic reference NG_031813.1
Transcript reference NM_025132.3
Exon/intron information NM_025132.3 exon/intron table
Associated with diseases CED-4, NPHP-13, SLSN-8, SRTD-5
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Heleen Arts
Total number of public variants reported 134
Unique public DNA variants reported 92
Individuals with public variants 22
Hidden variants 10
Notes Part of the "Eye disease databases"

The work leading to the establishment of these LSDBs was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created November 30, 2011
Date last updated December 02, 2019
Version WDR19:191202

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_025132.3.
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 http://www.LOVD.nl/WDR19
External URL Orphanet
HGNC 18340
Entrez Gene 57728
PubMed articles WDR19
OMIM - Gene 608151
OMIM - Diseases CED-4 (dysplasia, cranioectodermal, type 4 (CED-4))
NPHP-13 (nephronophthisis, type 13 (NPHP-13))
SLSN-8 (Senior-Loken syndrome, type 8 (SLSN-8))
SRTD-5 (dysplasia, short-rib thoracic, type 5, with or without polydactyly (SRTD-5))
GeneCards WDR19
GeneTests WDR19

Active transcripts




NCBI ID     

NCBI Protein ID     

00022751 4 WD repeat domain 19 NM_025132.3 NP_079408.3 134

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 © 2011-2019. 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.