The UMD-DMD France mutations database
1 small rearrangements at position 683

    Request ID: DMD

Protein nomenclature cDNA Nomenclature Exon Codon Structure HCD Rearrangement Mutation type Mutational event # records
p.Glu683X
c.2047G>T
17
683
CRD-hinge region #2
Small rearrangement
Tv
G->T
1