LOVD OCRL homepage

General information
Gene name oculocerebrorenal syndrome of Lowe
Gene symbol OCRL
Chromosome Location Xq26.1
Database location ncbivariation
Curator Brandi Kattman, Robert Nussbaum and Sharon Suchy
PubMed references View all (unique) PubMed references in the OCRL database
Date of creation March 30, 2009
Last update November 27, 2012
Version OCRL121127
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000023.10
Transcript refseq ID NM_000276.3
Total number of unique DNA variants reported 98
Total number of individuals with variant(s) 137
Total number of variants reported 137
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the OCRL database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the OCRL database, without patient data
Complete sequence variant listing Listing of all sequence variants in the OCRL database
Variants with no known pathogenicity Listing of all OCRL variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the OCRL database in tab-delimited text format.

Search the database
By type of variant View all sequence variants of a certain type
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
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
Entrez Gene 4952
OMIM - Gene 300535
OMIM - Disease #1 Lowe oculocerebrorenal syndrome
OMIM - Disease #2 Dent disease
HGMD OCRL
GeneCards OCRL
GeneTests OCRL
External link #1 http://www.lowesyndrome.org/

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