View gene WDR19

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
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 28
Unique public DNA variants reported 15
Individuals with public variants 20
Hidden variants 0
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 May 02, 2014
Version WDR19:140502

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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))
HGMD WDR19
GeneCards WDR19
GeneTests WDR19


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022751 4 WD repeat domain 19 NM_025132.3 NP_079408.3 28


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