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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. 59i_79_ c.(8797_8967)_(*1523_?)del r.? p.? - pathogenic (recessive) g.(?_31138513)_(31462715_31496363)del g.(?_31120396)_(31444598_31478246)del del ex60-79 - DMD_016079 - PubMed: Yun 2021 - - Germline - - - 0 - Johan den Dunnen
+/. 59i_79_ c.(8797_8967)_(*1523_?)del r.(8938_*2691del) p.? - pathogenic (recessive) g.(?_31138513)_(31462715_31496363)del g.(?_31120396)_(31444598_31478246)del c.(8937+1_8938-1)_*2691[0] - DMD_016079 deletion incl. GK and DAX1 genes PubMed: Tuffery-Giraud 2009, UMD 2634 database - - Germline - - - 0 - Johan den Dunnen
+/. 59i_79_ c.(8797_8967)_(*1523_?)del r.? p.(fs) - pathogenic (recessive) g.(?_31138513)_(31462715_31496363)del g.(?_31120396)_(31444598_31478246)del del ex60-79 - DMD_016079 - PubMed: Annexstad 2019 - - Germline/De novo (untested) - 1/67 cases - 0 - Johan den Dunnen
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