|
Variant ID: 105 |
cDNA Change | c.1165T>C |
|---|---|---|
| Amino Acid Change | p.Cys389Arg (Legacy AA No. 329) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | TGT > CGT | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 8.5E-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 | |||||||
| 340 | 1 | Heterozygous | 12 to 15 | 49.5 | unknown | James et al 1997 | |||