All transcript variants in gene DMD

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.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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_?)del pathogenic (recessive) r.0 p.0 g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del c.-244_*2691[0] - DMD_010079 deletion incl. IL1RAPL1 exon 7-11 (NM_014271.3:c.778+1_779-1del), NR0B1, GK PubMed: Zhang 2004 - - Unknown - - - 0 - Johan den Dunnen
+/+ _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0 p.0 g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del c.-244_*2691[0] - DMD_010079 deletion incl. IL1RAPL1, NR0B1, GK PubMed: Zhang 2004 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0 p.0 g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del chrX:g.(?_31042316)_(33268716_?)del; c.-244_*2691[0] - DMD_010079 >2.3 Mb whole gene deletion PubMed: delGaudio 2008 - - Germline - - - 0 - Johan den Dunnen
+/. _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0 p.0 g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del chrX:g.(?_31042316)_(33268716_?)del; c.-244_*2691[0] - DMD_010079 >2.3 Mb whole gene deletion PubMed: delGaudio 2008 - - Germline - - - 0 - Johan den Dunnen
+/. _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0? p.0? g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del c.-244_*2691[0] - DMD_010079 whole gene deletion incl. Dp427c - - - Germline - - - 0 - Ieke Ginjaar
+/. _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0 p.0 g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del c.-244_*2691[0] - DMD_010079 deletion incl. Dp427c - - - Germline - - - 0 - Ieke Ginjaar
+/. _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0 p.0 g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del c.-244_*2691[0] - DMD_010079 deletion incl. Dp427c - - - Germline - - - 0 - Ieke Ginjaar
+/. _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0 p.0 g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del Dp427p; Dp427c; c.-244_*2691[0] - DMD_010079 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
+/. _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0 p.0 g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del c.-244_*2691[0] - DMD_010079 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - 0 - Kevin Flanigan
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