|
Variant ID: 222 |
cDNA Change | c.959C>T |
|---|---|---|
| Amino Acid Change | p.Pro320Leu (Legacy AA No. 260) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | CTC > CCC | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 8.4E-6 |
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 | |||||||
| 764 | 2 | Heterozygous | 12.5 | 14.5 | 14.5 | Unknown | Kogiso et al 2011 | ||