The
UMD-DMD France
mutations database
3 small rearrangements at position 743
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Gln743X
c.2227C>T
18
743
CRD-repeat #4
Small rearrangement
Ts
C->T
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
2842
---MD_FR#F69077707m1
M
FR
0
2844
---MD_FR#F751045011
M
FR
0
p.Gln743HisfsX16
c.2229_2232delGAGT
18
743
CRD-repeat #4
Small rearrangement
Fr.
Stop at 758
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
9234
---MD_DE#DC9D5FAF-7A21-46F
M
DE
0