The UMD-DMD France mutations database
1 small rearrangements at position 1514

    Request ID: DMD

Protein nomenclature cDNA Nomenclature Exon Codon Structure HCD Rearrangement Mutation type Mutational event # records
p.Glu1514X
c.4540G>T
33
1514
CRD-repeat #11
Small rearrangement
Tv
G->T
1