|
Variant ID: 13 |
cDNA Change | c.64G>A |
|---|---|---|
| Amino Acid Change | p.Gly22Ser (Legacy AA No. -39) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Propeptide | |
| Sequence Context | GGC > AGC | |
| Location | Exon( 1) | |
| Minor Allele Frequency (MAF) | 4.49E-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 | |||||||
| 215 | 7 | Homozygous | 8 | unknown | Wulff et al 2000 | ||||
| 769 | 2 | Heterozygous | 6 | UK | Asymptomatic | Kwon et al 2011 | |||