The 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, EXT1, MO, TRPS2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Wim Wuyts
Total number of public variants reported 870
Unique public DNA variants reported 796
Individuals with public variants 850
Hidden variants 10
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 September 05, 2023
Version EXT1:230905

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
HGNC 3512
Entrez Gene 2131
PubMed articles EXT1
OMIM - Gene 608177
OMIM - Diseases chondrosarcoma
EXT1 (exostoses, congenital, multiple, type 1 (EXT1))
GeneCards EXT1
GeneTests EXT1
Orphanet EXT1

Active transcripts




NCBI ID     

NCBI Protein ID     

00007320 8 exostosin 1 NM_000127.2 NP_000118.2 870

Copyright & disclaimer
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