Multiple Osteochondroma Mutation Database - EXT1
LOVD EXT1 homepage

General information
Gene name Exostosin-1
Gene symbol EXT1
Chromosome Location 8q24.11-q24.13
Database location medgen.ua.ac.be
Curator administrator and Wim Wuyts
PubMed references View all (unique) PubMed references in the EXT1 database
Date of creation December 06, 2008
Last update December 27, 2013
Version EXT1 131227
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Reference sequence file coding DNA reference sequence for describing sequence variants
GenBank reference NM_000127
Total number of unique DNA variants reported 432
Total number of individuals with variant(s) 713
Total number of variants reported 713
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the EXT1 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 EXT1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the EXT1 database
Variants with no known pathogenicity Listing of all EXT1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the EXT1 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
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
Entrez Gene 2131
OMIM - Gene 608177
OMIM - Disease #1 Multiple Exostoses, Type I (MO1)
OMIM - Disease #2 Chondrosarcoma
OMIM - Disease #3 Trichorhinophalangeal Syndrome, Type II (TRPS2)
HGMD EXT1
GeneTests EXT1

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2014. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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.

This database has been constructed with the support of the EuroBoNeT consortium, a European Commission granted Network of Excellence for studying the pathology and genetics of bone tumours.