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.

50 entries on 1 page. Showing entries 1 - 50.
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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_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 2620 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 2619 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 2339 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 1668 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 2964 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 2965 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 403 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 404 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 416 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 415 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 2880 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 765 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 1786 database - - Germline - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - Juan ESHG2008 P06.183 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - Juan ESHG2008 P06.183 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.? g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup - - DMD_030207 non-contiguous duplication exons 2-7 and 50-55 PubMed: Fenollar-Cortes 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.? g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup - - DMD_030207 non-contiguous duplication exons 2-7 and 50-55 PubMed: Fenollar-Cortes 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Hwa 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup?) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup?) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup?) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - - - - Germline - - - 0 - Mireille Claustres
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - Dworniczak ESHG2008 P01.203 - - Germline - - - 0 - Bernd Dworniczak
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - - - - Germline - - - 0 - Gert Matthijs
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - - - - Germline - - - 0 - Gert Matthijs
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(?) p.no fs g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup ex2ex7dup; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - - - - Unknown - - - 0 - Alessandra Ferlini
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(?) p.no fs g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup ex2ex7dup; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - - - - Unknown - - - 0 - Alessandra Ferlini
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Gualandi 2009 - - Germline - - - 0 - Alessandra Ferlini
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Gualandi 2009 - - Germline - - - 0 - Alessandra Ferlini
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Gualandi 2009 - - Germline - - - 0 - Alessandra Ferlini
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(del) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - - - - Germline - - - 0 - Elena Neagu
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.(32_649dup) p.(dup?) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - - - - Germline - - - 0 - Jovan Pesović
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.? g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup dup ex2-7; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.? g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup dup ex2-7; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.? g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup dup ex2-7; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.? g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup dup ex2-7; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.? g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup dup ex2-7; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - 0 - Moon-Woo Seong
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.? g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup dup ex2-7; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - 0 - Moon-Woo Seong
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.? g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup dup ex2-7; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Polavarapu 2019 - - Germline yes - - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.(del) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup dup ex2-7; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.(del) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup ex02ex07dup, c.32-?_649+?dup - DMD_020207 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - 0 - Milena Cau
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.(del) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup ex2ex7dup, c.32-?_649+?dup  - DMD_020207 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - 0 - Monica Traverso
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.(del) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup ex2ex7dup, c.32-?_649+?dup - DMD_020207 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - 0 - Lorena Travaglini
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.? g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup dup ex2-7 - DMD_020207 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 2/284 cases - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.? g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup dup ex2-7 - DMD_020207 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.? g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup dup ex2-7 - DMD_020207 - PubMed: Mah 2011 - - Germline/De novo (untested) - 2/773 cases - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.? g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup dup ex2-7 - DMD_020207 - (PMID:Zhao 2018:29578119} - - Germline/De novo (untested) - 1/121 patients - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.? g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup dup ex2-7 and ex50-59 - DMD_020207 non-contiguous dup ex2-7 and ex50-59 PubMed: Zimowski 2014, PubMed: Zimowski 2013 - - Germline - 1/180 patients - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.? g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup dup ex2-7 - DMD_020207 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 2/284 cases - 0 - Johan den Dunnen
+/. 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.? g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup dup ex2-7 - DMD_020207 - PubMed: Mah 2011 - - Germline/De novo (untested) - 2/773 cases - 0 - Johan den Dunnen
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