The UMD-DMD France mutations database
1 small rearrangements at position 2248

    Request ID: DMD

Protein nomenclature cDNA Nomenclature Exon Codon Structure HCD Rearrangement Mutation type Mutational event # records
p.Glu2248X
c.6742G>T
46
2248
CRD-repeat #18
Small rearrangement
Tv
G->T
1