The
UMD-DMD France
mutations database
4 small rearrangements at position 1367
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Gln1367X
c.4099C>T
30
1367
CRD-repeat #9
Small rearrangement
Ts
C->T
3
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
10787
---MD_IT#318
M
IT
0
9876
---MD_HK#30
M
HK
0
35
---EAT_NMD_AR#AHGD46
M
AR
0
p.Gln1367ArgfsX15
c.4100delA
30
1367
CRD-repeat #9
Small rearrangement
Fr.
Stop at 1381
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
15913
---MD-US#284
M
US
0