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     
+/. 9 c.835A>G r.(?) p.(Thr279Ala) - pathogenic (recessive) g.32716112T>C g.32697995T>C 1043A>G - DMD_000073 not in 150 control chromosomes PubMed: Ortiz-Lopez, OMIM:var0073 ClinVar-RCV000012030 rs128627255 Germline - - - 0 - Johan den Dunnen
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