All variants in the DMD gene

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.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     
+/. 63i_79_ c.(9245_9338)_(*1523_?)dup r.? - - pathogenic (recessive) g.(?_31138513)_(31241187_31279113)dup g.(?_31120396)_(31223070_31260996)dup ex44-59;64-79 dup - DMD_026479 non-contiguous duplication ex44-59 and 64-79 PubMed: De Palma 2021 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 63i_79_ c.(9245_9338)_(*1523_?)dup r.(9287_*2691dup) p.(?) - pathogenic (recessive) g.(?_31138513)_(31241187_31279113)dup g.(?_31120396)_(31223070_31260996)dup c.(9286+1_9287-1)_*2691[2] - DMD_026479 - - - - Germline - - - 0 - Gert Matthijs
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