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.

2 entries on 1 page. Showing entries 1 - 2.
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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_12i c.-244(_-183)_(1384_1601){0} r.? p.(fs*) - pathogenic (recessive) g.(32613875_32632518)_(33229612_33357494)del g.(32595758_32614401)_(33211495_33339377)del ex1ex12del, c.-244_1482+?del - DMD_010112 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - 0 - Dr Silvana Tedeschi
+/. 0i_12i c.-244(_-183)_(1384_1601){0} r.0? p.0? - pathogenic (recessive) g.(32613875_32632518)_(33229612_33357494)del g.(32595758_32614401)_(33211495_33339377)del c.-244_(1482+1_1483-1)del - DMD_010112 - Jorge ESHG2006 P1191, PubMed: Santos 2014 - - Germline - - - 0 - Rosário dos Santos
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