|
Variant ID: 122 |
cDNA Change | c.1272G>C |
|---|---|---|
| Amino Acid Change | p.Trp424Cys (Legacy AA No. 364) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | TGG > TGC | |
| Location | Exon( 9) | |
| 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 | |||||||
| 358 | 1 | Homozygous | <1 | 132 | severe | Peyvandi et al 2000b | |||
| 691 | 2 | Homozygous | <1 | UK | Mild | Jayandharan et al 2007 | |||
| 734 | 1 | Homozygous | <1 | 132 | Severe | Peyvandi et al 2002 | |||