The
UMD-DMD France
mutations database
1 small rearrangements at position 2046
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Gln2046X
c.6136C>T
43
2046
CRD-repeat #16
Small rearrangement
Ts
C->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
11308
---MD_JP#20090910-01
M
JP
0