|
Variant ID: 119 |
cDNA Change | c.1268G>T |
|---|---|---|
| Amino Acid Change | p.Ser423Ile (Legacy AA No. 363) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | AGC > ATC | |
| 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 | |||||||
| 275 | 1 | Homozygous | <1 | 80 | mild | Peyvandi et al 2000b | |||
| 276 | 1 | Homozygous | <1 | 130 | mild | Peyvandi et al 2000b | |||
| 730 | 1 | Homozygous | <1 | 130 | Mild | Peyvandi et al 2000 | |||
| 733 | 1 | Homozygous | <1 | 80 | Moderate | Peyvandi et al 2002 | |||