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.

4 entries on 1 page. Showing entries 1 - 4.
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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_18i c.-244_(2226_2293-9)del pathogenic (recessive) r.0? p.0? g.(32519968_32536191)_(33229611_?)del g.(32501851_32518074)_(33211494_?)del c.-244_(2292+1_2293-1)del - DMD_010018 breakpoint within 5 kb centromeric of BB (cell line GM07691B), deletion includes Dp427c PubMed: Brown 1996 - - Unknown - - - 0 - Johan den Dunnen
+/. _0_18i c.-244_(2226_2293-9)del pathogenic (recessive) r.0? p.0? g.(32519968_32536191)_(33229611_?)del g.(32501851_32518074)_(33211494_?)del c.-244_(2292+1_2293-1)del - DMD_010018 deletion includes Dp427c PubMed: Stockley 2007 - - Germline - - - 0 - Peter Ray
+/. _0_18i c.-244_(2226_2293-9)del pathogenic (recessive) r.0? p.0? g.(32519968_32536191)_(33229611_?)del g.(32501851_32518074)_(33211494_?)del del1b-18; c.-244_(2292+1_2293-1)del - DMD_010018 - PubMed: Kalman 2011 - - Germline - - - 0 - Johan den Dunnen
+/. _0_18i c.-244_(2226_2293-9)del pathogenic (recessive) r.0? p.0? g.(32519968_32536191)_(33229611_?)del g.(32501851_32518074)_(33211494_?)del c.-244_(2292+1_2293-1)del - DMD_010018 centrimeric breakpoint close to marker BBJ, deletion includes Dp427c PubMed: Brown - - Germline - - - 0 - Johan den Dunnen
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