|
Variant ID: 213 |
cDNA Change | c.839A>C |
|---|---|---|
| Amino Acid Change | p.Glu280Ala (Legacy AA No. 220) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | GCG > GAG | |
| Location | Exon( 9) | |
| 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 | |||||||
| 452 | 2 | Heterozygous | 2 | 2 | Mild | Liu et al 2015 | |||