The
UMD-DMD France
mutations database
1 small rearrangements at position 116
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Leu116Pro
c.347T>C
5
116
Actin binding domain
Small rearrangement
Ts
T->C
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
7417
---MD_CN_HOSP#314
M
CN
0