All transcript variants in gene DMD

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)     

ClassClinical     

RNA change     

Protein     

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     
+/. 1 c.-54T>A pathogenic (recessive) r.(?) p.(=) g.33229483A>T g.33211366A>T - - DMD_002273 - PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
?/. 1 c.-54T>A VUS r.(=) p.(=) g.33229483A>T - - - DMD_002273 - PubMed: Wang 2019 - - Germline - - - 0 - Johan den Dunnen
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