|
Variant ID: 184 |
cDNA Change | c.345C>A |
|---|---|---|
| Amino Acid Change | p.Cys115* (Legacy AA No. 55) | |
| Type | Point | |
| Effect | Nonsense | |
| Domain | EGF1 | |
| Sequence Context | TGA > TGC | |
| Location | Exon( 5) | |
| 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 | |||||||
| 767 | 2 | Heterozygous | <10 | UK | Severe | Lee et al 2008 | |||
| 769 | 2 | Heterozygous | 6 | UK | Asymptomatic | Kwon et al 2011 | |||
| 772 | 2 | Heterozygous | 2,4 | UK | Severe | Kwon et al 2011 | |||
| 773 | 2 | Heterozygous | 1 | UK | Mild | Kwon et al 2011 | |||
| 774 | 2 | Heterozygous | 1,2 | UK | Severe | Kwon et al 2011 | |||