| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Lys3379X |
c.10135A>T |
70 |
3379 |
Carboxy-terminal region |
|
Small rearrangement |
Tv |
A->T |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6916 |
---MD_FR#F755740011 | M |
|
FR |
|
0 |
|
| p.Lys3379AsnfsX23 |
c.10137delA |
70 |
3379 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3401 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 11740 |
---MD_JP#20100114-02 | M |
|
JP |
|
0 |
|