The CRB1 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol CRB1
Gene name crumbs homolog 1 (Drosophila)
Chromosome 1
Chromosomal band q31-q32.1
Imprinted Unknown
Genomic reference NG_008483.1
Transcript reference NM_201253.2
Exon/intron information NM_201253.2 exon/intron table
Associated with diseases LCA8, PPCRA, RP12
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Frans Cremers
Total number of public variants reported 2082
Unique public DNA variants reported 558
Individuals with public variants 2733
Hidden variants 4
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 European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated May 09, 2022
Version CRB1:220509

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_201253.2.
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/CRB1
External URL Mutations of the Human Crumbs Homologue 1
HGNC 2343
Entrez Gene 23418
PubMed articles CRB1
OMIM - Gene 604210
OMIM - Diseases LCA8 (Leber congenital amaurosis, type 8 (LCA-8))
PPCRA (atrophy, chorioretinal, pigmented paravenous (PPCRA))
RP12 (retinitis pigmentosa, with/without PPRPE, type 12 (RP12))
HGMD CRB1
GeneCards CRB1
GeneTests CRB1
Orphanet CRB1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00005647 1 transcript variant 1 NM_201253.2 NP_957705.1 2082


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 © 2010-2022. 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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