The
UMD-DMD France
mutations database
1 small rearrangements at position 2147
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Glu2147X
c.6439G>T
45
2147
CRD-repeat #17
Small rearrangement
Tv
G->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
18776
---MD_NZ#121
M
NZ
0