The
UMD-DMD France
mutations database
3 small rearrangements at position 1194
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Gln1194X
c.3580C>T
26
1194
CRD-repeat #8
Small rearrangement
Ts
C->T
3
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
3120
---MD_FR#F691460AV11
M
FR
0
7607
---MD_CN_HOSP#219
M
CN
0
3122
---MD_FR#F759164011
M
FR
0