|
Variant ID: 111 |
cDNA Change | c.1205G>A |
|---|---|---|
| Amino Acid Change | p.Gly402Glu (Legacy AA No. 342) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | GGG > GAG | |
| 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 | |||||||
| 82 | 4 | Heterozygous | 42 | 85 | asymptomatic | Bernardi et al 1996 | |||
| 83 | 4 | Heterozygous | 48 | 108 | asymptomatic | Bernardi et al 1996 | |||
| 145 | 4 | Heterozygous | 39 | 104 | asymptomatic | Bernardi et al 1996 | |||
| 146 | 4 | Heterozygous | 55 | 101 | asymptomatic | Bernardi et al 1996 | |||