The
UMD-DMD France
mutations database
4 small rearrangements at position 189
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Gln189X
c.565C>T
7
189
Actin binding domain
Small rearrangement
Ts
C->T
4
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
2160
---MD_FR#F756262011
M
FR
0
9116
---MD_DE#C6B73CA3-06A3-459
M
DE
0
8586
---MD_DE#68F690DB-9744-448
M
DE
0
7083
---MD_CN_HOSP#486
M
CN
0