|
Variant ID: 128 |
cDNA Change | c.1179G>A |
|---|---|---|
| Amino Acid Change | p.Ser393= (Legacy AA No. 333) | |
| Type | Point | |
| Effect | Silent | |
| Domain | Serine Protease | |
| Sequence Context | TCG > TCA | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 5.08E-5 |
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 | |||||||
| 22 | 6 | Heterozygous | 43 | 42 | asymptomatic | Bernardi et al 1993 | |||