The UMD-DMD France mutations database
1 small rearrangements at position 1593

    Request ID: DMD

Protein nomenclature cDNA Nomenclature Exon Codon Structure HCD Rearrangement Mutation type Mutational event # records
p.Glu1593X
c.4777G>T
34
1593
CRD-repeat #12
Small rearrangement
Tv
G->T
1