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     
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.? p.? g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del Dp427c-ex1 - DMD_010001 - PubMed: Toksoy 2019 - - De novo - 1/260 cases - 0 - Güven Toksoy
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.? p.? g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del ex1-promotor - DMD_010001 - PubMed: Garcia-Planells 2009 - - Germline - - - 0 - Johan den Dunnen
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