The
UMD-DMD France
mutations database
2 small rearrangements at position 2141
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Tyr2141X
c.6423C>A
44
2141
CRD-repeat #17
Small rearrangement
Tv
C->A
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
9170
---MD_DE#D195EA03-C400-435
M
DE
0
p.Tyr2141X
c.6423C>G
44
2141
CRD-repeat #17
Small rearrangement
Tv
C->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
16477
---MD-US#1254
M
US
0