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
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
5414
---MD_FR#F751258011
M
FR
0