|
Variant ID: 223 |
cDNA Change | c.961C>T |
|---|---|---|
| Amino Acid Change | p.Leu321Phe (Legacy AA No. 261) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | TTC > CTC | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 8.4E-6 |
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 | |||||||
| 476 | 1 | Homozygous | 2 | 1 | Moderate | Borhany et al 2013 | |||
| 516 | 1 | Homozygous | 1 | 1 | Severe | Herrmann et al 2009 | |||