|
Variant ID: 50 |
cDNA Change | c.485G>A |
|---|---|---|
| Amino Acid Change | p.Cys162Tyr (Legacy AA No. 102) | |
| Type | Point | |
| Effect | Missense | |
| Domain | EGF2 | |
| Sequence Context | TGC > TAC | |
| Location | Exon( 6) | |
| 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 | |||||||
| 360 | 5 | Heterozygous | 2 | 19 | asymptomatic | Giansily-Blaizot et al 2001 | other mutation unknown | ||