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.

1 entry on 1 page. Showing entry 1.
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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     
+/. _0_7i c.-244_(558_831+11)del pathogenic (recessive) r.0 p.? g.(32717218_32827701)_(33229611_?)del g.(32699101_32809584)_(33211494_?)del Dp427c,Dp427p; c.-244_(649+1_650-1)del - DMD_010007 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
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