RLBP1 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol RLBP1
Gene name retinaldehyde binding protein 1
Chromosome 15
Chromosomal band q26.1
Imprinted Unknown
Genomic reference NG_008116.1
Transcript reference NM_000326.4
Associated with diseases NFRCD, dystrophy, retinal, Bothnia, fundus albipunctatus (retinitis punctata albescens (RPA))
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 16
Unique public DNA variants reported 12
Individuals with public variants 5
Hidden variants 9
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 March 23, 2018
Version RLBP1:180323

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 https://www.LOVD.nl/RLBP1
External URL Orphanet
HGNC 10024
Entrez Gene 6017
PubMed articles RLBP1
OMIM - Gene 180090
OMIM - Diseases NFRCD (Newfoundland rod-cone dystrophy (NFRCD))
dystrophy, retinal, Bothnia
fundus albipunctatus (retinitis punctata albescens (RPA))
HGMD RLBP1
GeneCards RLBP1
GeneTests RLBP1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00017799 15 retinaldehyde binding protein 1 NM_000326.4 NP_000317.1 16


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 © 2010-2019. 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.