The
UMD-DMD France
mutations database
2 small rearrangements at position 2983
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Gly2983X
c.8947G>T
60
2983
CRD-repeat #24
Small rearrangement
Tv
G->T
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
18428
---MD_CZ_SK#MDB-1444
M
CZ
0
18426
---MD_CZ_SK#MDB-9191
M
CZ
0