The UMD-DMD France mutations database
2 small rearrangements at position 2972

    Request ID: DMD

Protein nomenclature cDNA Nomenclature Exon Codon Structure HCD Rearrangement Mutation type Mutational event # records
p.Gln2972SerfsX18
c.8912_8913dup
59
2972
CRD-repeat #24
Small rearrangement
Stop at 2989
1   
p.Gln2972X
c.8914C>T
59
2972
CRD-repeat #24
Small rearrangement
Ts
C->T
1