|
Variant ID: 156 |
cDNA Change | c.1237C>G |
|---|---|---|
| Amino Acid Change | p.Arg413Gly (Legacy AA No. 353) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | GGG > CGG | |
| 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 | |||||||
| 586 | 1 | Heterozygous | 30_<50 | UK | Herrmann et al 2009 | Haemorrhages and Thrombosis | |||