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.

5 entries on 1 page. Showing entries 1 - 5.
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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_30i c.(-182_59)_(4194_4312)dup pathogenic (recessive) r.(32__4233dup) p.(fs*) g.(32408220_32429908)_(33038290_33229611)dup g.(32390103_32411791)_(33020173_33211494)dup c.(31+1_32-1)_(4233+1_4234-1)dup - DMD_020230 - Juan ESHG2008 P06.183 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_30i c.(-182_59)_(4194_4312)dup pathogenic (recessive) r.(32_4233dup) p.(fs*) g.(32408220_32429908)_(33038290_33229611)dup g.(32390103_32411791)_(33020173_33211494)dup dup2-30; c.(31+1_32-1)_(4233+1_4234-1)dup - DMD_020230 - PubMed: Kalman 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_30i c.(-182_59)_(4194_4312)dup pathogenic (recessive) r.(32_4233dup) p.(fs*) g.(32408220_32429908)_(33038290_33229611)dup g.(32390103_32411791)_(33020173_33211494)dup dup2-30; c.(31+1_32-1)_(4233+1_4234-1)dup - DMD_020230 - PubMed: Kalman 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_30i c.(-182_59)_(4194_4312)dup pathogenic (recessive) r.(32__4233dup) p.(fs*) g.(32408220_32429908)_(33038290_33229611)dup g.(32390103_32411791)_(33020173_33211494)dup c.(31+1_32-1)_(4233+1_4234-1)dup - DMD_020230 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 1i_30i c.(-182_59)_(4194_4312)dup pathogenic (recessive) r.? p.(fs*) g.(32408220_32429908)_(33038290_33229611)dup g.(32390103_32411791)_(33020173_33211494)dup dup ex2-30; c.(31+1_32-1)_(4233+1_4234-1)dup - DMD_020230 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - Chao Ling
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