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.

12 entries on 1 page. Showing entries 1 - 12.
Legend  

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.(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 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. 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 - DMD_020204 - - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
+/. 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 - DMD_020204 - PubMed: Annexstad 2019 - - Germline/De novo (untested) - 1/67 cases - 0 - Johan den Dunnen
Legend