FZD4 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol FZD4
Gene name frizzled family receptor 4
Chromosome 11
Chromosomal band q14-q21
Imprinted Unknown
Genomic reference NG_011752.1
Transcript reference NM_012193.3
Exon/intron information NM_012193.3 exon/intron table
Associated with diseases EVR-1, EVR, ROP
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Carmel Toomes
Total number of public variants reported 127
Unique public DNA variants reported 79
Individuals with public variants 497
Hidden variants 41
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases..Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated July 01, 2020
Version FZD4:200701

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_012193.3.
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/FZD4
External URL Orphanet
HGNC 4042
Entrez Gene 8322
PubMed articles FZD4
OMIM - Gene 604579
OMIM - Diseases EVR-1 (vitreoretinopathy, exudative, type 1 (EVR-1))
HGMD FZD4
GeneCards FZD4
GeneTests FZD4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00008236 11 frizzled family receptor 4 NM_012193.3 NP_036325.2 127


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 © 2010-2020. 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.