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     
+/. _0_60i c.-244_(8967_9117){0} r.? p.0? - pathogenic (recessive) g.(31366719_31462715)_(33357494_?)del g.(31348602_31444598)_(33339377_?)del del ex1-60 - DMD_010060 - PubMed: Patel 2021 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _0_60i c.-244_(8967_9117){0} r.0 p.0 - pathogenic (recessive) g.(31366719_31462715)_(33357494_?)del g.(31348602_31444598)_(33339377_?)del del ex1-60; c.-244_(9084+1_9085-1)del - DMD_010060 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - 0 - Moon-Woo Seong
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