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.

4 entries on 1 page. Showing entries 1 - 4.
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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_2i c.-244(_-182)_(59_128)del pathogenic (recessive) r.? p.? g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del del ex1-2 - DMD_010102 - - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
+/. 0i_2i c.-244(_-182)_(59_128)del pathogenic (recessive) r.0? p.0? g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del c.-244_(93+1_94-1)del - DMD_010102 - PubMed: Zeng 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 0i_2i c.-244(_-182)_(59_128)del pathogenic (recessive) r.0? p.0? g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del c.-244_(93+1_94-1)del - DMD_010102 - - - - Germline - - - 0 - Alessandra Ferlini
+/. 0i_2i c.-244(_-182)_(59_128)del pathogenic (recessive) r.0 p.0 g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del del ex1-2; c.-244_(93+1_94-1)del - DMD_010102 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
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