|
Variant ID: 45 |
cDNA Change | c.466G>A |
|---|---|---|
| Amino Acid Change | p.Gly156Ser (Legacy AA No. 96) | |
| Type | Point | |
| Effect | Missense | |
| Domain | EGF2 | |
| Sequence Context | GGC > AGC | |
| Location | Exon( 6) | |
| Minor Allele Frequency (MAF) | 3.49E-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 | |||||||
| 357 | 6 | Heterozygous | 2 | 15 | mild | Giansily-Blaizot et al 2001 | |||
| 522 | 1 | Homozygous | <4 | UK | Herrmann et al 2009 | thrombotic episode | |||
| 523 | 1 | Homozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 524 | 1 | Homozygous | 8 | UK | Mild | Herrmann et al 2009 | |||
| 782 | 1 | Heterozygous | 44 | UK | Unknown | Woo et al 2012 | |||