The
UMD-DMD France
mutations database
4 small rearrangements at position 492
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Gln492X
c.1474C>T
12
492
CRD-repeat #2
Small rearrangement
Ts
C->T
4
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
113
---EAT_NMD_AR#AHGD45
M
AR
0
9002
---MD_DE#AC03423A-8A95-4BB
M
AT
0
8996
---MD_DE#ABB07CD2-34C4-497
M
AT
0
13431
---#D191
M
NL
0