The
UMD-DMD France
mutations database
1 small rearrangements at position 2168
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Glu2168X
c.6502G>T
45
2168
CRD-repeat #17
Small rearrangement
Tv
G->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
9372
---MD_DE#F6E410A5-CA2E-420
M
DE
0