The
UMD-DMD France
mutations database
1 small rearrangements at position 1248
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Gln1248X
c.3742C>T
27
1248
CRD-repeat #8
Small rearrangement
Ts
C->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
232
---MD_BE_AR#18
M
BE
0