All variants in the DMD gene

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.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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     
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del ex1del, c.(?_-244)_31+?del - DMD_010101 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - 0 - Vincenzo Nigro
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del ex1del, c.-244_31+?del - DMD_010101 - - - - Germline/De novo (untested) - - - 0 - Emiliano Giardina
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del ex1del, c.1-?_31+?del - DMD_010101 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - 0 - Lorena Travaglini
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - Johan den Dunnen
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - 0 - Güven Toksoy
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - 0 - Güven Toksoy
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.0? p.0? - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del c.-244_(31+1_32-1)del - DMD_010101 - PubMed: Tuffery-Giraud 2009, UMD 2430 database - - Germline - - - 0 - Johan den Dunnen
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.0? p.0? - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del c.-244_(31+1_32-1)del - DMD_010101 - PubMed: Tuffery-Giraud 2009, UMD 1594 database - - Germline - - - 0 - Johan den Dunnen
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.0? p.0? - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del c.-244_(31+1_32-1)del - DMD_010101 del incl. promotor; de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 3007 database - - De novo - - - 0 - Johan den Dunnen
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.0? p.0? - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del c.-244_(31+1_32-1)del - DMD_010101 - PubMed: Tuffery-Giraud 2009, UMD 703 database - - Germline - - - 0 - Johan den Dunnen
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.0? p.0? - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del c.-244_(31+1_32-1)del - DMD_010101 - PubMed: Tuffery-Giraud 2009, UMD 1987 database - - Germline - - - 0 - Johan den Dunnen
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.(e1-e1del) p.0? - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del e1; c.-244_(31+1_32-1)del - DMD_010101 - PubMed: Chen 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.0? p.0? - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del c.-244_(31+1_32-1)del - DMD_010101 - - - - Germline - - - 0 - Ieke Ginjaar
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1; c.-244_(31+1_32-1)del - DMD_010101 - PubMed: Suh 2017 - - Germline - - - 0 - Johan den Dunnen
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1; c.-244_(31+1_32-1)del - DMD_010101 - PubMed: Suh 2017 - - Germline - - - 0 - Johan den Dunnen
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1; c.-244_(31+1_32-1)del - DMD_010101 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - 0 - Luz Berenice Lopez-Hernandez
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.0? p.0? - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 - PubMed: Wei 2011 - - Germline - - - 0 - Johan den Dunnen
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