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.

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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     
+/. _0_45i c.-244_(6538_6706){0} r.0? p.0? - pathogenic (recessive) g.(31950253_31986532)_(33357493_?)del g.(31932136_31968415)_(33339376_?)del ex1ex45del; c.-244_(6614+1_6615-1)del - DMD_010045 - - - - Unknown - - - 0 - Alessandra Ferlini
Legend   How to query