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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/


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