The 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 CED4, NPHP13, SLSN8, SRTD5
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 236
Unique public DNA variants reported 152
Individuals with public variants 168
Hidden variants 7
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 November 27, 2023
Version WDR19:231127

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
HGNC 18340
Entrez Gene 57728
PubMed articles WDR19
OMIM - Gene 608151
OMIM - Diseases CED4 (dysplasia, cranioectodermal, type 4 (CED-4))
NPHP13 (nephronophthisis, type 13 (NPHP-13))
SLSN8 (Senior-Loken syndrome, type 8 (SLSN-8))
SRTD5 (dysplasia, short-rib thoracic, type 5, with/without polydactyly (SRTD-5))
GeneCards WDR19
GeneTests WDR19
Orphanet WDR19

Active transcripts




NCBI ID     

NCBI Protein ID     

00022751 4 WD repeat domain 19 NM_025132.3 NP_079408.3 236

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2011-2023. 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.

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