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.

3 entries on 1 page. Showing entries 1 - 3.
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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 c.-128163A>G benign r.(?) p.(=) g.33357592T>C g.33339475T>C Dp427c:-210A>G - DMD_000379 - PubMed: Flanigan 2009 - rs5927163 Germline - 36/692 - 0 - Kevin Flanigan
-/. 0 c.-128163A>G benign r.(=) p.(=) g.33357592T>C g.33339475T>C Dp427c:-210A>G - DMD_000379 - - - rs5927163 Germline - 0.11 - 0 - Laurence Michel-Calemard
-/. 0 c.-128163A>G benign r.(=) p.(=) g.33357592T>C g.33339475T>C Dp427c:-210A>G - DMD_000379 - - - rs5927163 Germline - 2/28 - 0 - Franziska Joncourt
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