|
Variant ID: 190 |
cDNA Change | c.487A>G |
|---|---|---|
| Amino Acid Change | p.Ser163Gly (Legacy AA No. 103) | |
| Type | Point | |
| Effect | Missense | |
| Domain | EGF2 | |
| Sequence Context | GGT > AGT | |
| Location | Exon( 6) | |
| Minor Allele Frequency (MAF) | 4.27E-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 | |||||||
| 819 | 1 | Homozygous | <1 | 13 | Severe | Pruthi et al 2007 | |||
| 820 | 1 | Heterozygous | 41 | UK | Asymptomatic | Pruthi et al 2007 | |||