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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 1i_21i c.(-182_59)_(2709_2923)del pathogenic (recessive) r.(e2-e21del) p.fs g.(32490307_32503130)_(33038290_33229611)del g.(32472190_32485013)_(33020173_33211494)del del e2-e21; c.(31+1_32-1)_(2803+1_2804-1)del - DMD_010221 - PubMed: Chen 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 1i_21i c.(-182_59)_(2709_2923)del pathogenic (recessive) r.? p.(del) g.(32490307_32503130)_(33038290_33229611)del g.(32472190_32485013)_(33020173_33211494)del del ex2-21; c.(31+1_32-1)_(2803+1_2804-1)del - DMD_010221 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - Chao Ling
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