The
UMD-DMD France
mutations database
4 small rearrangements at position 373
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Glu373X
c.1117G>T
10
373
CRD-repeat #1
Small rearrangement
Tv
G->T
3
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
16133
---MD-US#644
M
US
0
12408
---MD_JP#20110228-03
M
JP
0
12406
---MD_JP#20110228-02
M
JP
0
p.Glu373ThrfsX10
c.1117_1129del
10
373
CRD-repeat #1
Small rearrangement
Fr.
Stop at 382
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
2504
---MD_FR#F3445622751
M
FR
0