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 (#0003802)
Phenotype (muscular dystrophy, Becker (BMD)/muscular dystrophy, Duchenne (DMD))
Phenotype additional -
Reference JdD
Remarks -
Geographic origin Saudi Arabia
Ethnic origin -
Gender M
Inheritance unknown
Consanguinity -
Fam_Pat -
# reported 1
CK level -
Protein data -
Submitter Johan den Dunnen

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
Exon 8_19
DNA change c.(531_650)_(2380_4344)del
Var_pub_as -
RNA change r.(?)
Protein change p.(?)
DB-ID DMD_MP8MP19
Variant remarks -
Genet_ori germline (inherited)
Reference Al-Jumah
Template DNA
Technique PCRm
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 8_19 c.(531_650)_(2380_4344)del - r.(?) p.(?) DMD_MP8MP19 - germline (inherited) Al-Jumah DNA PCRm - -