The RPGR gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol RPGR
Gene name retinitis pigmentosa GTPase regulator
Chromosome X
Chromosomal band p21.1
Imprinted Unknown
Genomic reference NG_009553.1
Transcript reference NM_000328.2, NM_001034853.1
Exon/intron information NM_000328.2 exon/intron table, NM_001034853.1 exon/intron table
Associated with diseases CORDX-1, RP3, XLRP, degeneration, macular, X-linked atrophic, retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 228
Unique public DNA variants reported 169
Individuals with public variants 1336
Hidden variants 36
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Date created March 06, 2009
Date last updated January 03, 2021
Version RPGR:210103

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_000328.2, NM_001034853.1.
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
External URL Orphanet
HGNC 10295
Entrez Gene 6103
PubMed articles RPGR
OMIM - Gene 312610
OMIM - Diseases CORDX-1 (dystrophy, cone-rod, X-linked, type 1 (CORDX-1))
RP3 (retinitis pigmentosa, type 3 (RP3))
degeneration, macular, X-linked atrophic
retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
GeneCards RPGR
GeneTests RPGR
Orphanet RPGR

Active transcripts




NCBI ID     

NCBI Protein ID     

00023832 X transcript variant C NM_001034853.1 NP_001030025.1 202
00000592 X transcript variant A NM_000328.2 NP_000319.1 197

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 © 2009-2021. 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.