|
Variant ID: 35 |
cDNA Change | c.362G>T |
|---|---|---|
| Amino Acid Change | p.Cys121Phe (Legacy AA No. 61) | |
| Type | Point | |
| Effect | Missense | |
| Domain | EGF1 | |
| Sequence Context | TGC > TTC | |
| 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 | |||||||
| 297 | 4 | Heterozygous | 1 | 7 | severe | Millar et al 2000 | |||