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     
+/. 0i_48i c.-244(_-182)_(7018_7099-10)del pathogenic (recessive) r.? p.(fs*) g.(31854946_31893385)_(33229611_33357493)del g.(31836829_31875268)_(33211494_33339376)del del ex1-48; c.(-127947_-245)_(7098+1_7099-1)del - DMD_046505 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - Chao Ling
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