The
UMD-DMD France
mutations database
1 small rearrangements at position 2317
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Glu2317X
c.6949G>T
48
2317
CRD-repeat #18
Small rearrangement
Tv
G->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
11362
---MD_JP#20090925-03
M
JP
0