|
Variant ID: 146 |
cDNA Change | c.1123C>T |
|---|---|---|
| Amino Acid Change | p.Arg375Trp (Legacy AA No. 315) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | TGG > CGG | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 0.000306 |
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 | |||||||
| 818 | 1 | Heterozygous | 38 | UK | Traynis et al 2006 | ||||
| 750 | 2 | Heterozygous | 26 | 67 | Asymptomatic | Furlan Freguia et al 2004 | |||
| 816 | 2 | Heterozygous | 54 | 26 | 67 | Asymptomatic | Pollak et al 2006 | ||