| Variant ID | 546 |
|---|---|
| Entrez Gene ID | 1756 |
| Gene | DMD (GeneCards) |
| Location | hg19 X:32834738-32834738
hg38 X:32816621-32816621 |
| Disease | Duchenne muscular dystrophy (view all the variants in this disease) |
| Method | DHPLC |
| Mutation(HGVS format) | NC_000023.10:g.32834738_32834738 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Frameshift | fsX46 |
| Position in cDNA | 377 |
| Changes in cDNA | NA > NA |
| Indel | delA |
| mRNA accession | NM_004006.1 |
| mRNA length | 11058 |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Deleterious probability by DeFine | 0.865 (Deleterious) |
| Entrez Gene ID | 1756 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DMD (GeneCards) |
| Number of variants in DMD in this database | 51 (view all the variants) |
| Full name | dystrophin |
| Band | Xp21.2-p21.1 |
| Other IDs | Vega: OTTHUMG00000021336 OMIM: 300377 HGNC: HGNC:2928 Ensembl: ENSG00000198947 |
| Other names | BMD, CMD3B, MRX85, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272 |
| 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. [provided by RefSeq, Dec 2016] |
| Individual ID | 12673664.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 12673664 |
| Whose mosaic mutation | Mother |
| Phenotype | 1 |
| Number of affected children | 1 ( male: 1; ) |
| Disease | Duchenne muscular dystrophy (view all the variants in this disease) |
| OMIM ID | 310200 |
| Pubmed ID | 12673664 |
|---|---|
| Title | Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophyDetection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient w |
| Journal | American Journal of Medical Genetics |
| Publication date | 2003.04 |
| Disease | Duchenne muscular dystrophy |
| Number of cases | Female cases: 1; |