|
Variant ID: 159 |
cDNA Change | c.1264G>T |
|---|---|---|
| Amino Acid Change | p.Val422Phe (Legacy AA No. 362) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | TTC > GTC | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) |
The details of the cases reported with the above variant is as below
Case ID |
Other Variants found in case |
Genotype |
FVII:C (%) |
FVII:Ag (%) |
Reported Clinical Severity |
Reference |
Comments |
||
|---|---|---|---|---|---|---|---|---|---|
TF-Unknown |
TF-Human |
TF-Rabbit |
|||||||
| 745 | 2 | Heterozygous | 3 | 58 | Mariani et al 2003 | Haemorrhages and Thrombosis | |||