The
UMD-DMD France
mutations database
1 small rearrangements at position 1253
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Arg1253ThrfsX17
c.3758_3759delGG
27
1253
CRD-repeat #8
Small rearrangement
Fr.
Stop at 1269
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
17019
---MD-US#2353
M
US
0