|
Variant ID: 99 |
cDNA Change | c.1088C>G |
|---|---|---|
| Amino Acid Change | p.Pro363Arg (Legacy AA No. 303) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | CCC > CGC | |
| 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 | |||||||
| 238 | 7 | Heterozygous | 15 | 60 | asymptomatic | Wulff et al 2000 | |||
| 506 | 2 | Heterozygous | 15 | 60 | Asymptomatic | Herrmann et al 2000 | |||