RHO gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol RHO
Gene name rhodopsin
Chromosome 3
Chromosomal band q21-q24
Imprinted Unknown
Genomic reference NG_009115.1
Transcript reference NM_000539.3
Exon/intron information NM_000539.3 exon/intron table
Associated with diseases CSNBAD-1, RP-4, fundus albipunctatus (retinitis punctata albescens (RPA))
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Kerry Goetz and Robert Hufnagel
Total number of public variants reported 104
Unique public DNA variants reported 78
Individuals with public variants 160
Hidden variants 1
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 March 06, 2009
Date last updated July 24, 2019
Version RHO:190724

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_000539.3.
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/RHO
External URL Orphanet
Mutations of the Rhodopsin Gene
HGNC 10012
Entrez Gene 6010
PubMed articles RHO
OMIM - Gene 180380
OMIM - Diseases CSNBAD-1 (blindness, night, stationary, congenital, autosomal dominant, type 1 (CSNBAD-1))
RP-4 (retinitis pigmentosa, type 4 (RP-4))
fundus albipunctatus (retinitis punctata albescens (RPA))
HGMD RHO
GeneCards RHO
GeneTests RHO


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001707 3 rhodopsin NM_000539.3 NP_000530.1 104


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 © 2009-2019. 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.