The UMD-DMD France mutations database
1 small rearrangements at position 2122

    Request ID: DMD

Protein nomenclature cDNA Nomenclature Exon Codon Structure HCD Rearrangement Mutation type Mutational event # records
p.Glu2122X
c.6364G>T
44
2122
CRD-repeat #17
Small rearrangement
Tv
G->T
1