The
UMD-DMD France
mutations database
2 small rearrangements at position 816
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Cys816X
c.2448C>A
20
816
CRD-repeat #4
Small rearrangement
Tv
C->A
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
11458
---MD_JP#20091027-01
M
JP
0
11460
---MD_JP#20091027-02
M
JP
0