|
Variant ID: 70 |
cDNA Change | c.796G>A |
|---|---|---|
| Amino Acid Change | p.Ala266Thr (Legacy AA No. 206) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | GCG > ACG | |
| Location | Exon( 8) | |
| Minor Allele Frequency (MAF) | 8.3E-6 |
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 | |||||||
| 238 | 7 | Heterozygous | 15 | 60 | asymptomatic | Wulff et al 2000 | |||
| 492 | 2 | Heterozygous | 30 | UK | Asymptomatic | Herrmann et al 2000 | |||
| 506 | 2 | Heterozygous | 15 | 60 | Asymptomatic | Herrmann et al 2000 | |||
| 620 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 621 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 622 | 1 | Heterozygous | 20_<30 | UK | Mild | Herrmann et al 2009 | |||