| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Tyr151IlefsX6 |
c.451delT |
6 |
151 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 156 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 14396 |
---MD_RU#7 | M |
|
RU |
|
0 |
|
| p.Tyr151X |
c.453T>A |
6 |
151 |
Actin binding domain |
|
Small rearrangement |
Tv |
T->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 9930 |
---MD_HK#63 | M |
|
HK |
|
0 |
|
| p.Tyr151X |
c.453T>G |
6 |
151 |
Actin binding domain |
|
Small rearrangement |
Tv |
T->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7235 |
---MD_CN_HOSP#407 | M |
|
CN |
|
0 |
|