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.

4 entries on 1 page. Showing entries 1 - 4.
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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_13i c.-244(_-183)_(1601_1603-8){0} r.? p.0? - pathogenic (recessive) g.(32591971_32613875)_(33229612_33357494)del g.(32573854_32595758)_(33211495_33339377)del del ex1-13 - DMD_010113 - PubMed: Luce 2016, Journal: Luce2016 - - Germline/De novo (untested) - - - 0 - Florencia Giliberto
+/. 0i_13i c.-244(_-183)_(1601_1603-8){0} r.? p.? - pathogenic (recessive) g.(32591971_32613875)_(33229612_33357494)del g.(32573854_32595758)_(33211495_33339377)del ex1ex13del; c.-244_(1602+1_1603-1)del - DMD_010113 - - - - Unknown - - - 0 - Alessandra Ferlini
+/. 0i_13i c.-244(_-183)_(1601_1603-8){0} r.? p.? - pathogenic (recessive) g.(32591971_32613875)_(33229612_33357494)del g.(32573854_32595758)_(33211495_33339377)del del ex1-13 - DMD_010113 - PubMed: Yun 2021 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 0i_13i c.-244(_-183)_(1601_1603-8){0} r.? p.? - pathogenic (recessive) g.(32591971_32613875)_(33229612_33357494)del g.(32573854_32595758)_(33211495_33339377)del del ex1-13; c.-244_(1602+1_1603-1)del - DMD_010113 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
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