When refering to this database please cite White SJ, den Dunnen JT (2006). Copy number variation in the genome; the human DMD gene as an example. Cytogenet.Genome Res. 115: 240-246.
NOTE: the link to the DMD reading frame checker moved to below under "Graphical displays and utilities".
An overview of del/dup frequencies per country, not all included in this database, can be found here.
NOTE: for small sequence changes (point mutations) go to the DMD gene variant database.
LOVD - Variant listings for DMD_d

About this overview [Show]

Patient data (#0003326)
Phenotype muscular dystrophy, Duchenne (DMD)
Phenotype additional -
Reference JdD
Remarks -
Geographic origin Germany
Ethnic origin -
Gender M
Inheritance unknown
Consanguinity -
Fam_Pat -
# reported 1
CK level -
Protein data -
Submitter Johan den Dunnen

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 1_79
DNA change c.0
Var_pub_as -
RNA change r.0
Protein change p.0
DB-ID DMD_00000
Variant remarks no paternal X-chromosome
Genet_ori germline (inherited)
Reference -
Template DNA
Technique ?
Frequency -
RE-site -

2 entries in DMD_d

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Genet_ori Descending
Ascending
Reference Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
+/+ Parent #2 1_79 c.0 - r.0 p.0 DMD_00000 no paternal X-chromosome germline (inherited) - DNA ? - -
+/? Unknown 3_17 c.(32_94)_(2168_2292)del - r.(?) p.(?) DMD_MP3MP17 - germline (inherited) Niemann-Seyde DNA PCRm - -