|
Variant ID: 204 |
cDNA Change | c.749C>T |
|---|---|---|
| Amino Acid Change | p.Ser250Phe (Legacy AA No. 190) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | TTC > TCC | |
| Location | Exon( 8) | |
| 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 | |||||||
| 435 | 2 | Heterozygous | 4 | 130 | Mild | Jiang et al 2011 | |||