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.
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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     
+/. 49i_79_ c.(7099-10_7309+14)_(*1524_?)del pathogenic (recessive) r.(?) p.Arg2401_Met3685delins? g.(?_31138512)_(31838078_31854946)del g.(?_31120395)_(31819961_31836829)del c.(7200+1_7201-1)_*2691[0] - DMD_015079 - PubMed: Tuffery-Giraud 2009, UMD 2739 database - - Germline - - - 0 - Johan den Dunnen
+/. 49i_79_ c.(7099-10_7309+14)_(*1524_?)del pathogenic (recessive) r.(?) p.(Arg2401_Met3685del) g.(?_31138512)_(31838078_31854946)del g.(?_31120395)_(31819961_31836829)del c.(7200+1_7201-1)_*2691[0] - DMD_015079 - PubMed: Tuffery-Giraud 2009, UMD 2994 database - - Germline - - - 0 - Johan den Dunnen
+/. 49i_79_ c.(7099-10_7309+14)_(*1524_?)del pathogenic (recessive) r.(?) p.(Arg2401_Met3685del) g.(?_31138512)_(31838078_31854946)del g.(?_31120395)_(31819961_31836829)del c.(7200+1_7201-1)_*2691[0] - DMD_015079 - PubMed: Tuffery-Giraud 2009, UMD 2995 database - - Germline - - - 0 - Johan den Dunnen
+/. 49i_79_ c.(7099-10_7309+14)_(*1524_?)del pathogenic (recessive) r.(?) p.(Arg2401_Met3685del) g.(?_31138512)_(31838078_31854946)del g.(?_31120395)_(31819961_31836829)del c.(7200+1_7201-1)_*2691[0] - DMD_015079 - PubMed: Tuffery-Giraud 2009, UMD 2997 database - - Germline - - - 0 - Johan den Dunnen
+/. 49i_79_ c.(7099-10_7309+14)_(*1524_?)del pathogenic (recessive) r.(?) p.(Arg2401_Met3685del) g.(?_31138512)_(31838078_31854946)del g.(?_31120395)_(31819961_31836829)del c.(7200+1_7201-1)_*2691[0] - DMD_015079 - PubMed: Tuffery-Giraud 2009, UMD 2996 database - - Germline - - - 0 - Johan den Dunnen
+/. 49i_79_ c.(7099-10_7309+14)_(*1524_?)del pathogenic (recessive) r.(e50-e79del) p.? g.(?_31138512)_(31838078_31854946)del g.(?_31120395)_(31819961_31836829)del del e50-e79; c.(7200+1_7201-1)_*2691[0] - DMD_015079 - PubMed: Chen 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 49i_79_ c.(7099-10_7309+14)_(*1524_?)del pathogenic (recessive) r.(?) p.Arg2401_Met3685delins? g.(?_31138512)_(31838078_31854946)del g.(?_31120395)_(31819961_31836829)del c.(7200+1_7201-1)_*2691[0] - DMD_015079 del ~4Mb (L1+, C7-) PubMed: Recan 1992, PubMed: Chelly 1988, PubMed: Marlhens 1987, PubMed: Matsumura 1993, UMD 706 database - - Germline - - - 0 - Johan den Dunnen
+/. 49i_79_ c.(7099-10_7309+14)_(*1524_?)del pathogenic (recessive) r.(7201_*2691del) p.(?) g.(?_31138512)_(31838078_31854946)del g.(?_31120395)_(31819961_31836829)del c.(7200+1_7201-1)_*2691[0] - DMD_015079 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 49i_79_ c.(7099-10_7309+14)_(*1524_?)del pathogenic (recessive) r.(7201_*2691del) p.(?) g.(?_31138512)_(31838078_31854946)del g.(?_31120395)_(31819961_31836829)del c.(7200+1_7201-1)_*2691[0] - DMD_015079 - PubMed: Schwartz 2004 - - Germline - - - 0 - Marianne Schwartz
+/. 49i_79_ c.(7099-10_7309+14)_(*1524_?)del pathogenic (recessive) r.(7201_*2691del) p.(?) g.(?_31138512)_(31838078_31854946)del g.(?_31120395)_(31819961_31836829)del c.(7200+1_7201-1)_*2691[0] - DMD_015079 - PubMed: Schwartz 2004 - - Germline - - - 0 - Marianne Schwartz
+/. 49i_79_ c.(7099-10_7309+14)_(*1524_?)del pathogenic (recessive) r.(?) p.? g.(?_31138512)_(31838078_31854946)del g.(?_31120395)_(31819961_31836829)del ex50ex79del; c.(7200+1_7201-1)_*2691[0] - DMD_015079 - - - - Unknown - - - 0 - Alessandra Ferlini
+/. 49i_79_ c.(7099-10_7309+14)_(*1524_?)del pathogenic (recessive) r.? p.(fs*) g.(?_31138512)_(31838078_31854946)del g.(?_31120395)_(31819961_31836829)del del ex50-79; c.(7200+1_7201-1)_*2691[0] - DMD_015079 - PubMed: Tomar 2019 - - Germline/De novo (untested) - - - 0 - Poh San Lai
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