|
Variant ID: 206 |
cDNA Change | c.752C>A |
|---|---|---|
| Amino Acid Change | p.Ala251Glu (Legacy AA No. 191) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | GAG > GCG | |
| 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 | |||||||
| 687 | 1 | Homozygous | <1 | UK | Severe | Jayandharan et al 2007 | |||
| 691 | 2 | Homozygous | <1 | UK | Mild | Jayandharan et al 2007 | |||