The UMD-DMD France mutations database
1 small rearrangements at position 2147

    Request ID: DMD

Protein nomenclature cDNA Nomenclature Exon Codon Structure HCD Rearrangement Mutation type Mutational event # records
p.Glu2147X
c.6439G>T
45
2147
CRD-repeat #17
Small rearrangement
Tv
G->T
1