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.

8 entries on 1 page. Showing entries 1 - 8.
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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     
+/. _0_79 c.-244_(*1524_?){0} r.0? p.0? - pathogenic (recessive) g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del del ex1-79 - DMD_010079 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 1/284 cases - 0 - Johan den Dunnen
+/. _0_79_ c.-244_(*1524_?){0} r.0 p.0 - pathogenic (recessive) g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del c.-244_*2691[0] - DMD_010079 deletion incl. Dp427c - - - Germline - - - 0 - Ieke Ginjaar
+/. _0_79_ c.-244_(*1524_?){0} r.0 p.0 - pathogenic (recessive) g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del c.-244_*2691[0] - DMD_010079 deletion incl. Dp427c - - - Germline - - - 0 - Ieke Ginjaar
+/. _0_79_ c.-244_(*1524_?){0} r.0 p.0 - pathogenic (recessive) g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del c.-244_*2691[0] - DMD_010079 - Vancso ESHG2008 P01.221 - - Germline - - - 0 - Johan den Dunnen
+/. _0_79_ c.-244_(*1524_?){0} r.0 p.0 - pathogenic (recessive) g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del del ex1-79; c.-244_*2691[0] - DMD_010079 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - 0 - Moon-Woo Seong
+/. _0_79_ c.-244_(*1524_?){0} r.0 p.0 - pathogenic (recessive) g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del c.-244_*2691[0] - DMD_010079 - Vancso ESHG2008 P01.221 - - Germline - - - 0 - Johan den Dunnen
+/. _0_79_ c.-244_(*1524_?){0} r.0 p.0 - pathogenic (recessive) g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del - - DMD_010079 whole gene deletion incl. Dp427c PubMed: Tuffery-Giraud 2009, UMD 1592 database - - Germline - - - 0 - Johan den Dunnen
+/. _0_79_ c.-244_(*1524_?){0} r.0 p.0 - pathogenic (recessive) g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del - - DMD_010079 whole gene deletion incl. Dp427c PubMed: Tuffery-Giraud 2009, UMD 2476 database - - Germline - - - 0 - Johan den Dunnen
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