| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ser319HisfsX16 |
c.955delT |
9 |
319 |
CRD-hinge region #1 |
|
Small rearrangement |
Fr. |
Stop at 334 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7355 |
---MD_CN_HOSP#345 | M |
|
CN |
|
0 |
|
| p.Ser319X |
c.956C>G |
9 |
319 |
CRD-hinge region #1 |
|
Small rearrangement |
Tv |
C->G |
1 |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2386 |
---MD_FR#F3415909581 | M |
|
FR |
|
0 |
|