| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ser234X |
c.701C>A |
8 |
234 |
Actin binding domain |
|
Small rearrangement |
Tv |
C->A |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 18609 |
---MD_AU#233 | M |
|
AU |
|
0 |
| 18611 |
---MD_AU#234 | M |
|
AU |
|
0 |
|
| p.Ser234X |
c.701C>G |
8 |
234 |
Actin binding domain |
|
Small rearrangement |
Tv |
C->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 12130 |
---MD_JP#20100802-02 | M |
|
JP |
|
0 |
|