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.

10 entries on 1 page. Showing entries 1 - 10.
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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_ c.(?_-1)_(31+1_94-1)del pathogenic (recessive) r.0? p.0? g.(32867938_33229398)_(33229430_?)del - - - DMD_040356 - PubMed: Ikezawa - - Germline - - - 0 - Johan den Dunnen
+/. _1_ c.(?_-1)_(31+1_94-1)del pathogenic (recessive) r.0? p.0? g.(32867938_33229398)_(33229430_?)del - - - DMD_040356 - PubMed: Ikezawa - - Germline - - - 0 - Johan den Dunnen
+/. _1_ c.(?_-1)_(31+1_94-1)del pathogenic (recessive) r.0 p.? g.(32867938_33229398)_(33229430_?)del - - - DMD_040356 Pm PubMed: Bellayou 2009 - - Germline - - - 0 - Johan den Dunnen
+/. _1_ c.(?_-1)_(31+1_94-1)del pathogenic (recessive) r.0? p.0? g.(32867938_33229398)_(33229430_?)del - - - DMD_040356 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
+/. _1_ c.(?_-1)_(31+1_94-1)del pathogenic (recessive) r.0? p.0? g.(32867938_33229398)_(33229430_?)del - - - DMD_040356 - PubMed: Taylor 2007 - - Germline - - - 0 - Michael Buckley
+/. _1_ c.(?_-1)_(31+1_94-1)del pathogenic (recessive) r.0? p.0? g.(32867938_33229398)_(33229430_?)del - TD, Pr1(+) - DMD_040052 TD, Pr1(+) PubMed: Bermudez-Lopez 2014 - - Germline yes - - 0 - Miguel Angel Alcántara-Ortigoza
+/. _1_ c.(?_-1)_(31+1_94-1)del pathogenic (recessive) r.0? p.0? g.(32867938_33229398)_(33229430_?)del - - - DMD_040052 - PubMed: Bermudez-Lopez 2014 - - De novo yes - - 0 - Miguel Angel Alcántara-Ortigoza
+/. _1_ c.(?_-1)_(31+1_94-1)del pathogenic (recessive) r.0? p.0? g.(32867938_33229398)_(33229430_?)del - - - DMD_040052 - PubMed: Bermudez-Lopez 2014 - - Germline yes - - 0 - Miguel Angel Alcántara-Ortigoza
+/. _1_ c.(?_-1)_(31+1_94-1)del pathogenic (recessive) r.0? p.0? g.(32867938_33229398)_(33229430_?)del - - - DMD_040052 - PubMed: Bermudez-Lopez 2014 - - De novo yes - - 0 - Miguel Angel Alcántara-Ortigoza
+/. _1_ c.(?_-1)_(31+1_94-1)del pathogenic (recessive) r.0? p.0? g.(32867938_33229398)_(33229430_?)del - - - DMD_040052 - PubMed: Bermudez-Lopez 2014 - - De novo yes - - 0 - Miguel Angel Alcántara-Ortigoza
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