EXT1 gene homepage

A Multiple Osteochondroma Mutation Database
General information
Gene symbol EXT1
Gene name exostosin 1
Chromosome 8
Chromosomal band q24.11
Imprinted Unknown
Genomic reference NG_007455.2
Transcript reference NM_000127.2
Exon/intron information NM_000127.2 exon/intron table
Associated with diseases chondrosarcoma, EXT-1, MO, TRPS-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Wim Wuyts
Total number of public variants reported 820
Unique public DNA variants reported 764
Individuals with public variants 800
Hidden variants 45
Download all this gene's data Download all data
Notes The Multiple Osteochondroma Mutation Database for EXT1 was initiated with the support of the EuroBoNeT consortium, a European Commission granted Network of Excellence for studying the pathology and genetics of bone tumours.
Date created December 06, 2008
Date last updated April 28, 2019
Version EXT1:190428

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000127.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/EXT1
HGNC 3512
Entrez Gene 2131
PubMed articles EXT1
OMIM - Gene 608177
OMIM - Diseases chondrosarcoma
EXT-1 (exostoses, congenital, multiple, type 1 (EXT-1))
TRPS-2 (LGS)
HGMD EXT1
GeneCards EXT1
GeneTests EXT1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007320 8 exostosin 1 NM_000127.2 NP_000118.2 820


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 © 2008-2019. 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.