The
UMD-DMD France
mutations database
1 small rearrangements at position 683
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Glu683X
c.2047G>T
17
683
CRD-hinge region #2
Small rearrangement
Tv
G->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
13072
---MD_JP#20130214-01
M
JP
0