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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
./. 60i_79_ c.(8968_9118)_*2691dup r.? - - pathogenic (!) g.(?_31137345)_(31366718_31462714)dup g.(?_31119228)_(31348601_31444597)dup del ex27-43 & dup ex61-79 - DMD_038443 non-contiguous deletion del ex27-43 and duplication ex61-79 - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
./. 60i_79_ c.(8968_9118)_*2691dup r.? - - pathogenic (!) g.(?_31137345)_(31366718_31462714)dup g.(?_31119228)_(31348601_31444597)dup del ex27-45 & dup ex61-79 - DMD_038445 non-contiguous deletion del ex27-45 and duplication ex61-79 - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
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