The
UMD-DMD France
mutations database
2 small rearrangements at position 1046
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Gln1046X
c.3136C>T
23
1046
CRD-repeat #7
Small rearrangement
Ts
C->T
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
12976
---MD_JP#20121001-02
M
JP
0
9076
---MD_DE#BC5C45EF-62B7-418
M
DE
0