|
Variant ID: 165 |
cDNA Change | c.1384C>T |
|---|---|---|
| Amino Acid Change | p.Arg462* (Legacy AA No. 402) | |
| Type | Point | |
| Effect | Nonsense | |
| Domain | Serine Protease | |
| Sequence Context | TGA > CGA | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 2.68E-5 |
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 | |||||||
| 459 | 1 | Homozygous | 2 | UK | Asymptomatic | Branchini et al 2012 | |||
| 755 | 1 | Homozygous | 3 | <1 | Asymptomatic | Branchini et al 2012 | |||
| 762 | 2 | Heterozygous | <3 | <1 | Unknown | Okamoto et al 2009 | |||
| 763 | 1 | Heterozygous | 24 | UK | Mild | Tanaka et al 2010 | |||