|
Variant ID: 69 |
cDNA Change | c.791T>C |
|---|---|---|
| Amino Acid Change | p.Leu264Pro (Legacy AA No. 204) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | CTG > CCG | |
| Location | Exon( 8) | |
| Minor Allele Frequency (MAF) | 1.65E-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 | |||||||
| 787 | 1 | Heterozygous | 7.5 | 23 | Asymptomatic | Kavlie et al 2004 | |||