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.

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/+ _1_79_ c.(?_-244)_(*2691_?)del pathogenic (recessive) r.0 p.0 g.(25040000_28600000)_(33229674_?)del - - - DMD_040079 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/+ _1_79_ c.(?_-244)_(*2691_?)del pathogenic (recessive) r.0 p.0 g.(25040000_28600000)_(33229674_?)del - - - DMD_040079 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/+ _1_79_ c.(?_-244)_(*2691_?)del pathogenic (recessive) r.0 p.0 g.(28606165_29935580)_(33229674_?)del - - - DMD_040080 deletion incl. IL1RAPL1 (partial), NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/+ _1_79_ c.(?_-244)_(*2691_?)del pathogenic (recessive) r.0 p.0 g.(30000000_30322000)_(33229674_?)del - - - DMD_040081 deletion incl. NR0B1 (DAX1), GK, DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
+/+ _1_79_ c.(?_-244)_(*2691_?)del pathogenic (recessive) r.0 p.0 g.(30328000_30670000)_(33229674_?)del - - - DMD_040082 deletion incl. GK and DMD PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - 0 - Johan den Dunnen
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