DMD Chromosome X
Dystrophin
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What This Gene Does
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. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
"Zinc fingers ZZ-type|MicroRNA protein coding host genes|Spectrin repeat containing"
Locus Type
gene with protein product
Location
Xp21.2-p21.1
Ensembl
ENSG00000198947
Associated Conditions (65)
Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy
Dystrophin deficiency
Cardiovascular phenotype
Dilated cardiomyopathy 3B
Colorectal cancer
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
DMD-related disorder
Thyroid cancer
nonmedullary
1
Intellectual disability
Elevated circulating creatine kinase concentration
Primary familial hypertrophic cardiomyopathy
Primary dilated cardiomyopathy
Clear cell carcinoma of kidney
atypical
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
+45 more conditions
Key Variants
RS1015097529
Conflicting classifications of pathogenicity
Duchenne muscular dystrophy, Becker muscular dystrophy, Cardiomyopathy
Health Risk
RS1023328955
Conflicting classifications of pathogenicity
Duchenne muscular dystrophy, Becker muscular dystrophy, Dilated cardiomyopathy 3B
Health Risk
RS1037540075
Conflicting classifications of pathogenicity
Duchenne muscular dystrophy, Duchenne muscular dystrophy
Health Risk
RS1038213947
Conflicting classifications of pathogenicity
Duchenne muscular dystrophy, Becker muscular dystrophy, Dystrophin deficiency
Health Risk
RS1040362862
Conflicting classifications of pathogenicity
Duchenne muscular dystrophy, Dystrophin deficiency, Cardiovascular phenotype
Health Risk
RS1047334468
Conflicting classifications of pathogenicity
Duchenne muscular dystrophy, Cardiovascular phenotype, Duchenne muscular dystrophy
Health Risk
RS1055371114
Conflicting classifications of pathogenicity
Duchenne muscular dystrophy, Duchenne muscular dystrophy, Cardiomyopathy
Health Risk
RS1057515869
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, Becker muscular dystrophy
Health Risk
RS1057519106
Conflicting classifications of pathogenicity
Duchenne muscular dystrophy, Dystrophin deficiency, Becker muscular dystrophy
Health Risk
RS1057519179
Conflicting classifications of pathogenicity
Duchenne muscular dystrophy, Duchenne muscular dystrophy
Health Risk
RS1057521321
Conflicting classifications of pathogenicity
Health Risk
RS1057522383
Conflicting classifications of pathogenicity
Duchenne muscular dystrophy, Duchenne muscular dystrophy
Health Risk
All Variants (2342)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1557218269 | Health Risk | Pathogenic | — |
| RS1557272125 | Health Risk | Pathogenic | — |
| RS1557290181 | Health Risk | Pathogenic | — |
| RS1557290355 | Health Risk | Pathogenic | — |
| RS1557291003 | Health Risk | Pathogenic | — |
| RS1557291170 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557291229 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557291242 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557292678 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557294228 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557294296 | Health Risk | Pathogenic | — |
| RS1557294341 | Health Risk | Pathogenic | — |
| RS1557300135 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557303544 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557304860 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557305418 | Health Risk | Pathogenic | — |
| RS1557305645 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557315881 | Health Risk | Pathogenic | Becker muscular dystrophy, Becker muscular dystrophy |
| RS1557315928 | Health Risk | Pathogenic | Calf muscle hypertrophy, Primary dilated cardiomyopathy, Abnormal muscle fiber dystrophin expression |
| RS1557320151 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557320194 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557322201 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557322834 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557322838 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557340452 | Health Risk | Pathogenic | — |
| RS1557357445 | Health Risk | Pathogenic | — |
| RS1557359155 | Health Risk | Pathogenic | — |
| RS1557359217 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557365503 | Health Risk | Pathogenic | — |
| RS1557369413 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557369493 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557369991 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557374482 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557374667 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Abnormality of the musculature, Duchenne muscular dystrophy |
| RS1557380496 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557380616 | Health Risk | Pathogenic | Becker muscular dystrophy, Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557380670 | Health Risk | Pathogenic | — |
| RS1557380685 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557383751 | Health Risk | Pathogenic | — |
| RS1557383761 | Health Risk | Pathogenic | — |
| RS1557396600 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557396632 | Health Risk | Pathogenic | — |
| RS1569140330 | Health Risk | Pathogenic | — |
| RS1569169560 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1569169736 | Health Risk | Pathogenic | — |
| RS1569186252 | Health Risk | Pathogenic | Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin |
| RS1569213903 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1569229528 | Health Risk | Pathogenic | — |
| RS1569230215 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1569230293 | Health Risk | Pathogenic | Duchenne muscular dystrophy, Duchenne muscular dystrophy |