The
UMD-DMD France
mutations database
2 small rearrangements at position 1788
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Ser1788X
c.5363C>G
38
1788
CRD-repeat #14
Small rearrangement
Tv
C->G
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
16091
---MD-US#571
M
US
0
9334
---MD_DE#EB340904-4B50-40F
M
DE
0