The
UMD-DMD France
mutations database
2 small rearrangements at position 277
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Gln277X
c.829C>T
8
277
CRD-hinge region #1
Small rearrangement
Ts
C->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
7551
---MD_CN_HOSP#247
M
CN
0
c.IVS8+2T>C (c.831+2T>C)
8
277
Small rearrangement
Ts
T->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
12374
---MD_JP#20110214-02
M
JP
0