|
Variant ID: 147 |
cDNA Change | c.1151C>T |
|---|---|---|
| Amino Acid Change | p.Thr384Met (Legacy AA No. 324) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | ATG > ACG | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 0.0001102 |
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 | |||||||
| 702 | 1 | Homozygous | 13 | 36 | Asymptomatic | Mota et al 2009 | |||
| 703 | 1 | Homozygous | 4 | 70 | Asymptomatic | Mota et al 2009 | |||
| 792 | 1 | Heterozygous | 29 | 29 | UK | Mild | Salcioglu et al 2012 | ||
| 813 | 2 | Heterozygous | 3 | 4 | UK | Asymptomatic | Bolton-Maggs et al 2007 | ||