The
UMD-DMD France
mutations database
3 small rearrangements at position 1376
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Glu1376X
c.4126G>T
30
1376
CRD-repeat #10
Small rearrangement
Tv
G->T
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
12618
---MD_JP#20110913-02
M
JP
0
12616
---MD_JP#20110913-01
M
JP
0
p.Glu1376TyrfsX3
c.4126_4135del
30
1376
CRD-repeat #10
Small rearrangement
Fr.
Stop at 1378
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
3214
---MD_FR#F3413915501
M
FR
0