| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ile665GlyfsX52 |
c.1993_2000del |
17 |
665 |
CRD-repeat #3 |
|
Small rearrangement |
Fr. |
Stop at 716 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 14119 |
---MD_PT#10 | M |
|
PT |
|
0 |
|
|
c.IVS16-3C>G (c.1993-3C>G) |
17 |
665 |
|
|
Small rearrangement |
Tv |
C->G |
1 |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13952 |
---MD_PL#PL/2005-08-13/DMD/280 | M |
|
PL |
|
0 |
|