The
UMD-DMD France
mutations database
1 small rearrangements at position 2167
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Glu2167X
c.6499G>T
45
2167
CRD-repeat #17
Small rearrangement
Tv
G->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
13573
---#D298
M
NL
0