The
UMD-DMD France
mutations database
3 small rearrangements at position 2685
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Glu2685X
c.8053G>T
55
2685
CRD-repeat #21
Small rearrangement
Tv
G->T
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
11808
---MD_JP#20100205-03
M
JP
0
12134
---MD_JP#20100804-01
M
JP
0
p.Glu2686LysfsX40
c.8055delA
55
2685
CRD-repeat #21
Small rearrangement
Fr.
Stop at 2725
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
6532
---MD_FR#F751375011
M
FR
0