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     
+/. 45i_79_ c.(6614+2302_6614+2352)_*2691{0} r.? p.? - pathogenic (recessive) g.(31036905_31036955)_(31984104_31984154)del g.? del ex46-79 - DMD_038306 947,1kb deletion PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - 0 - Madhuri Hegde
+/. 45i_79_ c.(6614+2302_6614+2352)_*2691{0} r.? p.? - pathogenic (recessive) g.(31036905_31036955)_(31984104_31984154)del g.? del ex46-79 - DMD_038307 947,1kb deletion PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - 0 - Madhuri Hegde
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