|
Variant ID: 172 |
cDNA Change | c.178C>G |
|---|---|---|
| Amino Acid Change | p.Arg60Gly (Legacy AA No. -1) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Propeptide | |
| Sequence Context | GGC > CGC | |
| Location | Exon( 3) | |
| 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 | |||||||
| 814 | 1 | Heterozygous | 15 | 15 | UK | Asymptomatic | Davidson et al 2010 | ||