The
UMD-DMD France
mutations database
3 small rearrangements at position 2220
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Leu2220X
c.6659T>A
46
2220
CRD-repeat #18
Small rearrangement
Tv
T->A
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
8432
---MD_DE#4F3DDB2B-E2FA-4A9
M
DE
0
9350
---MD_DE#F060CAAB-CF5D-4C6
M
DE
0
p.Leu2220X
c.6659T>G
46
2220
CRD-repeat #18
Small rearrangement
Tv
T->G
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
12044
---MD_JP#20100611-02
M
JP
0