|
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 | ||