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.

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/. 62i_78i c.(9186_9245)_(11046+43_*1523)del r.? p.fs - pathogenic (recessive) g.(31138513_31144716)_(31279113_31341753)del g.(31120396_31126599)_(31260996_31323636)del del ex63-78 - DMD_016378 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 62i_78i c.(9186_9245)_(11046+43_*1523)del r.? p.fs - pathogenic (recessive) g.(31138513_31144716)_(31279113_31341753)del g.(31120396_31126599)_(31260996_31323636)del del ex63-78 - DMD_016378 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 62i_78i c.(9186_9245)_(11046+43_*1523)del r.? p.? - pathogenic (recessive) g.(31138513_31144716)_(31279113_31341753)del g.(31120396_31126599)_(31260996_31323636)del del ex63-78 - DMD_016378 - PubMed: Mah 2011 - - Germline/De novo (untested) - 2/773 cases - 0 - Johan den Dunnen
+/. 62i_78i c.(9186_9245)_(11046+43_*1523)del r.? p.? - pathogenic (recessive) g.(31138513_31144716)_(31279113_31341753)del g.(31120396_31126599)_(31260996_31323636)del del ex63-78 - DMD_016378 - PubMed: Mah 2011 - - Germline/De novo (untested) - 2/773 cases - 0 - Johan den Dunnen
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