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.

11 entries on 1 page. Showing entries 1 - 11.
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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     
+/. _0_1i c.-244_(-182_59){0} r.? p.(fs*) - pathogenic (recessive) g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del del Dp427c-ex1; c.-244_(31+1_32-1)del - DMD_010001 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. _0_1i c.-244_(-182_59){0} r.? p.(fs*) - pathogenic (recessive) g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del del Dp427c-ex1; c.-244_(31+1_32-1)del - DMD_010001 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. _0_1i c.-244_(-182_59){0} r.? p.0? - pathogenic (recessive) g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del Dp427c/ex1, c.(?_-128297)_31+?del - DMD_010001 - PubMed: Rasic 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
./. _0_1i c.-244_(-182_59){0} r.? p.? - pathogenic (recessive) g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del exDp427c-1 - DMD_010001 - - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
./. _0_1i c.-244_(-182_59){0} r.? p.? - pathogenic (recessive) g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del exDp427c-1 - DMD_010001 - - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
+/. _0_1i c.-244_(-182_59){0} r.0? p.0? - pathogenic (recessive) g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del c.-244_(31+1_32-1)del - DMD_010001 deletion includes Dp427c Jorge ESHG2006 P1191 - - Germline - - - 0 - Johan den Dunnen
+/. _0_1i c.-244_(-182_59){0} r.0? p.0? - pathogenic (recessive) g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del c.-244_(31+1_32-1)del - DMD_010001 deletion includes Dp427c - - - Germline - - - 0 - Ieke Ginjaar
+/. _0_1i c.-244_(-182_59){0} r.0? p.0? - pathogenic (recessive) g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del c.-244_(31+1_32-1)del - DMD_010001 deletion includes Dp427c - - - Germline - - - 0 - Ieke Ginjaar
+/. _0_1i c.-244_(-182_59){0} r.? p.? - pathogenic (recessive) g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del Dp427c-ex1 - DMD_010001 - PubMed: Toksoy 2019 - - De novo - 1/260 cases - 0 - Güven Toksoy
+/. _0_1i c.-244_(-182_59){0} r.? p.? - pathogenic (recessive) g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del ex1-promotor - DMD_010001 - PubMed: Garcia-Planells 2009 - - Germline - - - 0 - Johan den Dunnen
+/. _0_1i c.-244_(-182_59){0} r.0 p.0 - pathogenic (recessive) g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del ex1; c.-244_(31+1_32-1)del - DMD_010001 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - 0 - Moon-Woo Seong
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