The
UMD-DMD France
mutations database
4 small rearrangements at position 1711
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Gln1711X
c.5131C>T
36
1711
CRD-repeat #13
Small rearrangement
Ts
C->T
3
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
13487
---#D243
M
NL
0
93
---EAT_NMD_AR#AHGD76
M
AR
0
13948
---MD_PL#PL/2009-04-03/DMD/345
M
PL
0
p.Gln1711SerfsX10
c.5131delC
36
1711
CRD-repeat #13
Small rearrangement
Fr.
Stop at 1720
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
12802
---MD_JP#20120326-01
M
JP
0