The
UMD-DMD France
mutations database
3 small rearrangements at position 673
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Gln673X
c.2017C>T
17
673
CRD-hinge region #2
Small rearrangement
Ts
C->T
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
2784
---MD_FR#F378227408081
M
FR
0
12936
---MD_JP#20120823-01
M
JP
0
p.Gln673AsnfsX43
c.2017_2027del
17
673
CRD-hinge region #2
Small rearrangement
Fr.
Stop at 715
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
2786
---MD_FR#F750893011
M
FR
0