|
Variant ID: 196 |
cDNA Change | c.593T>C |
|---|---|---|
| Amino Acid Change | p.Ile198Thr (Legacy AA No. 138) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Activation Peptide | |
| Sequence Context | ACA > ATA | |
| Location | Exon( 7) | |
| 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 | |||||||
| 704 | 2 | Heterozygous | 4 | 5.5 | Asymptomatic | Mota et al 2009 | |||