The
UMD-DMD France
mutations database
1 small rearrangements at position 817
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Gln817X
c.2449C>T
20
817
CRD-repeat #4
Small rearrangement
Ts
C->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
18778
---MD_NZ#149
M
NZ
0