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.

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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     
+/. 3i_79_ c.(128_228)_*2691{0}del r.? p.? - pathogenic (recessive) g.(?_31137345)_(32862936_32867903)del g.(?_31119228)_(32844819_32849786)del del ex4-79 - DMD_010479 - PubMed: Megarbane 2021 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
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