|
Variant ID: 220 |
cDNA Change | c.932C>T |
|---|---|---|
| Amino Acid Change | p.Pro311Leu (Legacy AA No. 251) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | CTC > CCC | |
| 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 | |||||||
| 480 | 2 | Heterozygous | 49 | 12 | 42 | Asymptomatic | Mourey et al 2014 | ||