Home > Gene Browser > DMD

DMD

Synonyms
BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85
External resources
Summary
This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
26
Likely pathogenic
0
VUS
10,151
Likely benign
4,756
Benign
4,114

Patient phenotypes

Proportions of phenotypes among 19 patients carring pathogenic or likely pathogenic variants on DMD gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
52.6%
Abnormality of the nervous system
36.8%
Abnormality of head or neck
15.8%
Abnormality of the eye
15.8%
Growth abnormality
15.8%
Abnormality of the cardiovascular system
10.5%
Abnormality of the genitourinary system
10.5%
Abnormality of the respiratory system
10.5%
Abnormality of limbs
5.3%
Abnormality of the digestive system
5.3%
Abnormality of the immune system
5.3%
Abnormality of the integument
5.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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