|
Variant ID: 100 |
cDNA Change | c.1090C>T |
|---|---|---|
| Amino Acid Change | p.Arg364Trp (Legacy AA No. 304) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | CGG > TGG | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 1.7E-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 | |||||||
| 63 | 6 | Homozygous | 2 | asymptomatic | Giansily-Blaizot et al 2001 | ||||
| 397 | 1 | Homozygous | 60 (bovine) | 16 | <5 | 87 | asymptomatic | Matsushita et al 1994 | FVII NAGOYA |
| 430 | 2 | Heterozygous | UK | UK | Unknown | Ding et al 2003 | |||
| 442 | 2 | Heterozygous | 2_<6 | not in the abstract | Mild | Jin et al 2012 | |||
| 444 | 1 | Homozygous | 2_<6 | not in the abstract | Asymptomatic | Jin et al 2012 | |||