The
UMD-DMD France
mutations database
4 small rearrangements at position 2118
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Gln2118X
c.6352C>T
44
2118
CRD-repeat #17
Small rearrangement
Ts
C->T
4
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
9576
---MD_ES1#MDA
M
ES
0
9591
---MD_ES_BCN#5
M
ES
0
9589
---MD_ES_BCN#4
M
ES
0
9578
---MD_ES1#JDA
M
ES
0