|
Variant ID: 104 |
cDNA Change | c.1163T>C |
|---|---|---|
| Amino Acid Change | p.Phe388Ser (Legacy AA No. 328) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | TTC > TCC | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 1.69E-5 |
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 | |||||||
| 161 | 6 | Heterozygous | <1 | 65 | severe | Giansily-Blaizot et al 2001 | |||
| 350 | 1 | Homozygous | <1 | 38 | severe | Bharadwaj et al 1996 | FVII CENTRAL | ||
| 518 | 1 | Homozygous | 1 | UK | Mild | Herrmann et al 2009 | |||