The
UMD-DMD France
mutations database
2 small rearrangements at position 2343
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Trp2343X
c.7028G>A
48
2343
CRD-repeat #19
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
8960
---MD_DE#A78F8B30-9201-4E4
M
DE
0
p.Trp2343X
c.7029G>A
48
2343
CRD-repeat #19
Small rearrangement
Ts
G->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
15675
---MD_UK#319
M
UK
0