|
Variant ID: 65 |
cDNA Change | c.718G>A |
|---|---|---|
| Amino Acid Change | p.Gly240Arg (Legacy AA No. 180) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | GGG > AGG | |
| 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 | |||||||
| 134 | 6 | Heterozygous | 3 | 23 | mild | Giansily-Blaizot et al 2001 | |||
| 729 | 1 | Homozygous | <1 | UK | Severe | Landau et al 2009 | |||