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.

15 entries on 1 page. Showing entries 1 - 15.
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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_4i c.(-182_59)_(228_310)dup pathogenic (recessive) r.(32_264dup) p.(fs*) g.(32841459_32862936)_(33038290_33229611)dup g.(32823342_32844819)_(33020173_33211494)dup c.(31+1_32-1)_(264+1_265-1)dup - DMD_020204 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1621 database - - De novo - - - 0 - Johan den Dunnen
+/. 1i_4i c.(-182_59)_(228_310)dup pathogenic (recessive) r.(32_264dup) p.(fs*) g.(32841459_32862936)_(33038290_33229611)dup g.(32823342_32844819)_(33020173_33211494)dup c.(31+1_32-1)_(264+1_265-1)dup - DMD_020204 - PubMed: Tuffery-Giraud 2009, UMD 1862 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_4i c.(-182_59)_(228_310)dup pathogenic (recessive) r.(32_264dup) p.(fs*) g.(32841459_32862936)_(33038290_33229611)dup g.(32823342_32844819)_(33020173_33211494)dup c.(31+1_32-1)_(264+1_265-1)dup - DMD_020204 - PubMed: Tuffery-Giraud 2009, UMD 2830 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_4i c.(-182_59)_(228_310)dup pathogenic (recessive) r.(32_264dup) p.(fs*) g.(32841459_32862936)_(33038290_33229611)dup g.(32823342_32844819)_(33020173_33211494)dup c.(31+1_32-1)_(264+1_265-1)dup - DMD_020204 - PubMed: Tuffery-Giraud 2009, UMD 1030 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_4i c.(-182_59)_(228_310)dup pathogenic (recessive) r.(32_264dup) p.? g.(32841459_32862936)_(33038290_33229611)dup g.(32823342_32844819)_(33020173_33211494)dup g.33,026,750_32,761,250dup; c.(31+1_32-1)_(264+1_265-1)dup - DMD_020204 265.5 Kb duplication PubMed: Hegde 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_4i c.(-182_59)_(228_310)dup pathogenic (recessive) r.(32_264dup) p.? g.(32841459_32862936)_(33038290_33229611)dup g.(32823342_32844819)_(33020173_33211494)dup g.33,026,750_32,761,250dup; c.(31+1_32-1)_(264+1_265-1)dup - DMD_020204 265.5 Kb duplication PubMed: Hegde 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_4i c.(-182_59)_(228_310)dup pathogenic (recessive) r.(32_264dup) p.? g.(32841459_32862936)_(33038290_33229611)dup g.(32823342_32844819)_(33020173_33211494)dup g.33,013,846_32,761,242dup; c.(31+1_32-1)_(264+1_265-1)dup - DMD_020204 252.604 Kb duplication PubMed: Hegde 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_4i c.(-182_59)_(228_310)dup pathogenic (recessive) r.(32_264dup) p.(fs*) g.(32841459_32862936)_(33038290_33229611)dup g.(32823342_32844819)_(33020173_33211494)dup dup2-4; c.(31+1_32-1)_(264+1_265-1)dup - DMD_020204 - PubMed: Kalman 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_4i c.(-182_59)_(228_310)dup pathogenic (recessive) r.[=, 32_264dup] p.[=, Asn88_Val89insMetfs*15] g.(32841459_32862936)_(33038290_33229611)dup g.(32823342_32844819)_(33020173_33211494)dup c.(31+1_32-1)_(264+1_265-1)dup - DMD_020204 RNA muscle, 2 transcripts 50% PubMed: Gualandi 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_4i c.(-182_59)_(228_310)dup pathogenic (recessive) r.(32_264dup) p.(fs*) g.(32841459_32862936)_(33038290_33229611)dup g.(32823342_32844819)_(33020173_33211494)dup c.(31+1_32-1)_(264+1_265-1)dup - DMD_020204 - - - - Germline - - - 0 - Mireille Claustres
+/. 1i_4i c.(-182_59)_(228_310)dup pathogenic (recessive) r.(32_264dup) p.(fs*) g.(32841459_32862936)_(33038290_33229611)dup g.(32823342_32844819)_(33020173_33211494)dup c.(31+1_32-1)_(264+1_265-1)dup - DMD_020204 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
+/. 1i_4i c.(-182_59)_(228_310)dup pathogenic (recessive) r.? p.? g.(32841459_32862936)_(33038290_33229611)dup g.(32823342_32844819)_(33020173_33211494)dup dup ex2-4; c.(31+1_32-1)_(264+1_265-1)dup - DMD_020204 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - 0 - Moon-Woo Seong
+/. 1i_4i c.(-182_59)_(228_310)dup pathogenic (recessive) r.? p.? g.(32841459_32862936)_(33038290_33229611)dup g.(32823342_32844819)_(33020173_33211494)dup dup ex2-4; c.(31+1_32-1)_(264+1_265-1)dup - DMD_020204 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - 0 - Moon-Woo Seong
+/. 1i_4i c.(-182_59)_(228_310)dup pathogenic (recessive) r.? p.? g.(32841459_32862936)_(33038290_33229611)dup g.(32823342_32844819)_(33020173_33211494)dup dup ex2-4; c.(31+1_32-1)_(264+1_265-1)dup - DMD_020204 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - 0 - Moon-Woo Seong
+/. 1i_4i c.(-182_59)_(228_310)dup pathogenic (recessive) r.? p.(fs*) g.(32841459_32862936)_(33038290_33229611)dup g.(32823342_32844819)_(33020173_33211494)dup dup ex2-4; c.(31+1_32-1)_(264+1_265-1)dup - DMD_020204 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - Chao Ling
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