RPGR @ rpgr.hgu.mrc.ac.uk/

When using or discussing LOVD please refer to:
Fokkema IFAC, Den Dunnen JT and Taschner PEM (2005). LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-Box" approach.
Hum Mutat. 2005 Aug;26(2):63-8.

RPGR @ rpgr.hgu.mrc.ac.uk/

General information
Gene name:	Retinitis Pigmentosa GTPase Regulator
Gene symbol:	RPGR
Chromosome Location:	Xp21.1
Database location:	rpgr.hgu.mrc.ac.uk/
Curator:	Xinhua Shu and Alan Wright
Date of creation:	May 03, 2005
*Last update*:	*February 24, 2009*
*Version*:	*RPGR090224*
*Add allelic variant*:	Submit an allelic variant
First time submitters:	Register here
Coding DNA reference sequences:	RPGR reference sequence for describing allelic variants U57629, AF286472, BK005711
*Total number of allelic variants*:	358
*Number of unique allelic variants*:	358

Allelic variant tables
Complete allelic variant table:	Listing of all allelic variants in the RPGR database
Summary tables:	Summary of all allelic variants in the RPGR database, sorted by type of variant (with graphical displays and statistics)
Polymorphism table:	Listing of all RPGR variants reported to have no noticeable phenotypic effect

Search the database
By type of variant:	View allelic variant table after selecting one type of variant
Simple search:	Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search:	Query the database by selecting a combination of variables

Links to other resources:
Homepage	http://rpgr.hgu.mrc.ac.uk/supplementary/
OMIM - gene	312610
RetNet	http://www.sph.uth.tmc.edu/Retnet
HGMD	http://www.hgmd.cf.ac.uk/
Retina International	http://www.retina-international.org/