|
Variant ID: 25 |
cDNA Change | c.262C>G |
|---|---|---|
| Amino Acid Change | p.Arg88Gly (Legacy AA No. 28) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Gla | |
| Sequence Context | CGG > GGG | |
| Location | Exon( 3) | |
| Minor Allele Frequency (MAF) | 5.38E-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 | |||||||
| 347 | 6 | Heterozygous | 2 | mild | Giansily-Blaizot et al 2001 | ||||
| 587 | 1 | Heterozygous | 30_<50 | UK | Asymptomatic | Herrmann et al 2009 | |||
| 588 | 1 | Heterozygous | 30_<50 | UK | Mild | Herrmann et al 2009 | |||