|
Variant ID: 186 |
cDNA Change | c.396C>A |
|---|---|---|
| Amino Acid Change | p.Cys132* (Legacy AA No. 72) | |
| 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 | |||||||
| 483 | 1 | Homozygous | <1 | <1 | Severe | Chafa et al 2004 | |||
| 484 | 2 | Heterozygous | 3 | 34 | Moderate | Chafa et al 2004 | |||