|
Variant ID: 108 |
cDNA Change | c.1172G>A |
|---|---|---|
| Amino Acid Change | p.Gly391Asp (Legacy AA No. 331) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | GGC > GAC | |
| 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 | |||||||
| 80 | 1 | Heterozygous | 46 (bovine) | 85 | 23 | 77 | asymptomatic | Zheng et al 1996 | |
| 425 | 1 | Heterozygous | 36 | 36 | 90 | Asymptomatic | Rodrigues et al 2003 | ||