The
UMD-DMD France
mutations database
2 small rearrangements at position 2732
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Lys2732X
c.8194A>T
55
2732
CRD-repeat #22
Small rearrangement
Tv
A->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
8100
---MD_DE#0D558847-DC64-417
M
AT
0
p.Glu2733SerfsX2
c.8196delA
55
2732
CRD-repeat #22
Small rearrangement
Fr.
Stop at 2734
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
16851
---MD-US#2054
M
US
0