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_79 c.-244(_-182)_(*1524_?)del pathogenic (recessive) r.0? p.0? g.(?_31138512)_(33229611_33357493)del g.(?_31120395)_(33211494_33339376)del ex1ex79del, c.-244_*2691delĀ  - DMD_010179 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - Carmela Scuderi
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