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LOVD OTX2 homepage

General information
Gene name Orthodenticle homeobox 2
Gene symbol OTX2
Chromosome Location 14q21-q22
Database location MRC Human Genetics Unit
Curator Graeme Grimes, Isabel Hanson, David FitzPatrick, Kathy Williamson and Veronica van Heyningen
PubMed references View all (unique) PubMed references in the OTX2 database
Date of creation December 20, 2007
Last update June 07, 2017
Version OTX2 170607
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Reference sequence coding DNA reference sequence for describing sequence variants
Total number of unique DNA variants reported 58
Total number of individuals with variant(s) 65
Total number of variants reported 68
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NOTE The reference cDNA sequence for this Database is NM_172337.1. Please click on 'OTX2 full legend' at the bottom of the table of variants for information about nucleotide and exon numbering.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the OTX2 database, sorted by type of variant (with graphical displays and statistics)

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the OTX2 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the OTX2 database
Variants with no known pathogenicity Listing of all OTX2 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the OTX2 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 5015
OMIM - Gene 600037
GeneTests OTX2

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