|
Variant ID: 16 |
cDNA Change | c.190T>C |
|---|---|---|
| Amino Acid Change | p.Phe64Leu (Legacy AA No. 4) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Gla | |
| Sequence Context | TTC > CTC | |
| 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 | |||||||
| 216 | 8 | Homozygous | <1 | unknown | Wulff et al 2000 | ||||
| 495 | 1 | Homozygous | <1 | 2 | Moderate | Herrmann et al 2000 | |||