The
UMD-DMD France
mutations database
1 small rearrangements at position 2114
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Lys2114X
c.6340A>T
44
2114
CRD-repeat #17
Small rearrangement
Tv
A->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
17441
---MD-US#3774
M
US
0