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.

2 entries on 1 page. Showing entries 1 - 2.
Legend  

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     
+/. 1i_11i c.(-182_59)_(1175_1403)del pathogenic (recessive) r.(32_1331del) p.(fs*) g.(32632499_32662405)_(33038290_33229611)del g.(32614382_32644288)_(33020173_33211494)del c.(31+1_32-1)_(1331+1_1332-1)del - DMD_010211 - - - - Germline - - - 0 - Mayana Zatz
+/. 1i_11i c.(-182_59)_(1175_1403)del pathogenic (recessive) r.? p.(fs*) g.(32632499_32662405)_(33038290_33229611)del g.(32614382_32644288)_(33020173_33211494)del del ex2-11; c.(31+1_32-1)_(1331+1_1332-1)del - DMD_010211 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - Chao Ling
Legend