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
Associated with diseases CORDX-1, RP-3, 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) LOVD-team, but with Curator vacancy
Total number of public variants reported 94
Unique public DNA variants reported 73
Individuals with public variants 65
Hidden variants 84
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 July 30, 2018
Version RPGR:180730

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.
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/RPGR
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))
RP-3 (retinitis pigmentosa, type 3 (RP-3))
degeneration, macular, X-linked atrophic
retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
HGMD RPGR
GeneCards RPGR
GeneTests RPGR


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000592 X transcript variant A NM_000328.2 NP_000319.1 94
00023832 X transcript variant C NM_001034853.1 NP_001030025.1 68


Copyright & disclaimer
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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.