The DMD gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages.
NOTE: for MLPA-detected deletion/duplication variants we use a probe-based HGVS description, for the exon-based description check the "Published as" column.
General information
Gene symbol DMD
Gene name dystrophin
Chromosome X
Chromosomal band p21.2
Imprinted Not imprinted
Genomic reference LRG_199
Transcript reference NM_004006.2
Exon/intron information NM_004006.2 exon/intron table
Associated with diseases BMD, BMD/DMD, CMD3B, DMD, hCK
Citation reference(s) PubMed: Aartsma-Rus et al. 2006, PubMed: White & den Dunnen 2006
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 35495
Unique public DNA variants reported 8396
Individuals with public variants 55336
Hidden variants 1393
Notes This database is one of the gene variant databases from the:.
When refering to this database please cite Aartsma-Rus et al. 2006. Muscle Nerve. 34:135-144 and/or White SJ, den Dunnen JT 2006. Cytogenet.Genome Res. 115: 240-246.
Date created July 29, 1997
Date last updated November 28, 2023
Version DMD:231128

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_004006.2.
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
External URL DOVE (DMD Open-access Variant Explorer)
the Leiden Muscular Dystrophy pages
HGNC 2928
Entrez Gene 1756
PubMed articles DMD
OMIM - Gene 300377
OMIM - Diseases BMD (dystrophy, muscular, Becker type (BMD))
CMD3B (cardiomyopathy, dilated, type 3B (CMD-3B))
DMD (dystrophy, muscular, Duchenne type (DMD))
hCK (hyperCKemia (hCK, elevated serum creatine phosphokinase))
GeneCards DMD
GeneTests DMD
Orphanet DMD

Active transcripts




NCBI ID     

NCBI Protein ID     

00000024 X dystrophin, transcript variant Dp427m NM_004006.2 NP_003997.1 35495

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 1997-2023. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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.