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.

6 entries on 1 page. Showing entries 1 - 6.
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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){2} r.? p.? - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)dup g.(33020174_33211495)_(33211495_33339377)dup dup ex1 and dup ex3-16 - DMD_020101 non-contiguous duplication ex1 and duplication ex3-16 PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - Johan den Dunnen
+?/. 0i_1i c.-244(_-183)_(-183_58){2} r.(=?) p.(=?) - likely pathogenic g.(33038291_33229612)_(33229612_33357494)dup g.(33020174_33211495)_(33211495_33339377)dup c.-244_(31+1_32-1)dup - DMD_020101 duplication Dp427m promoter PhD thesis A.Esterhuizen (Cape Town), PubMed: Esterhuizen 2014 - - Germline - - - 0 - Johan den Dunnen
+?/. 0i_1i c.-244(_-183)_(-183_58){2} r.(=?) p.(=?) - likely pathogenic g.(33038291_33229612)_(33229612_33357494)dup g.(33020174_33211495)_(33211495_33339377)dup c.-244_(31+1_32-1)dup - DMD_020101 duplication Dp427m promoter PhD thesis A.Esterhuizen (Cape Town), PubMed: Esterhuizen 2014 - - Germline - - - 0 - Johan den Dunnen
+/. 0i_1i c.-244(_-183)_(-183_58){2} r.? p.? - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)dup g.(33020174_33211495)_(33211495_33339377)dup c.-244_(31+1_32-1)dup - DMD_020101 - - - - Germline - - - 0 - Ieke Ginjaar
-/. 0i_1i c.-244(_-183)_(-183_58){2} r.? p.? - benign g.(33038291_33229612)_(33229612_33357494)dup g.(33020174_33211495)_(33211495_33339377)dup c.-244_(31+1_32-1)dup - DMD_020101 - - - - Germline - - - 0 - Lucila Sandoval Ramirez
?/. 0i_1i c.-244(_-183)_(-183_58){2} r.? p.? - VUS g.(33038291_33229612)_(33229612_33357494)dup g.(33020174_33211495)_(33211495_33339377)dup c.-244_(31+1_32-1)dup - DMD_020101 - PubMed: López-Hernández 2015 - - Germline - - - 0 - Luz Berenice Lopez-Hernandez
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