|
Variant ID: 207 |
cDNA Change | c.752C>T |
|---|---|---|
| Amino Acid Change | p.Ala251Val (Legacy AA No. 191) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | GTG > GCG | |
| Location | Exon( 8) | |
| Minor Allele Frequency (MAF) | 2.48E-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 | |||||||
| 416 | 1 | Homozygous | 4 | 5 | Asymptomatic | Borensztajn et al 2005 | |||