|
Variant ID: 67 |
cDNA Change | c.751G>A |
|---|---|---|
| Amino Acid Change | p.Ala251Thr (Legacy AA No. 191) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | GCG > ACG | |
| 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 | |||||||
| 354 | 5 | Homozygous | <5 | 25 | asymptomatic | Giansily-Blaizot et al 2001 | |||
| 417 | 2 | Heterozygous | 6 | 7 | Asymptomatic | Borensztajn et al 2005 | |||
| 515 | 1 | Homozygous | 13 | UK | Mild | Herrmann et al 2009 | |||