|
Variant ID: 199 |
cDNA Change | c.641T>G |
|---|---|---|
| Amino Acid Change | p.Val214Gly (Legacy AA No. 154) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | GGG > GTG | |
| Location | Exon( 7) | |
| 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 | |||||||
| 732 | 2 | Heterozygous | 1 | 42 | Mild | Toso et al 2003 | |||