All transcript variants in gene DMD

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages.
NOTE: for MLPA-detected deletion/duplication variants we use a probe-based HGVS description, for the exon-based description check the "Published as" column.
Information The variants shown are described using the NM_004006.2 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. _0_7_ c.[(?_-128297)_(-127947_?)dup; (31+1_32-1)_(649+1_650-1)dup] pathogenic (recessive) r.(?) p.? g.? - chrX:g.[(33256170_33256641)_(33268673_33268775)dup; (32711863_32712214)_(33111518_33111742)dup] - DMD_030007 non-contiguous duplication exons 1c (12 Kb) and 1m-7 (399 Kb) PubMed: delGaudio 2008 - - Germline - - - 0 - Johan den Dunnen
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