DMD
This page contains an overview of the genetic variation in the DMD gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
DMD gene and transcript details
Gene Name
dystrophin
Gene Links
Ensembl: ENSG00000198947 -
Locus Reference Genomic: LRG_199
Genomic Location
Chromosome X : 31,140,036 - 33,229,429 (reverse strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (11055 bases) | Protein (3685 aa) |
|---|---|---|
 |
ENST00000357033 | ENSP00000354923 |
 |
LRG_199t1 | LRG_199p1 |
 |
NM_004006.2 | |
 |
Summary of DMD in Cardiomyopathies
DMD variants in ExAC
Details of the protein-altering DMD variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 1167 | 0.02143 |
| Truncating | 13 | 0.00018 |
| Missense | 1016 | 0.01879 |
| Inframe | 12 | 0.00019 |
| Splice Site | 126 | 0.00228 |