|
Variant ID: 85 |
cDNA Change | c.973G>A |
|---|---|---|
| Amino Acid Change | p.Glu325Lys (Legacy AA No. 265) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | GAA > AAA | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 3.36E-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 | |||||||
| 54 | 7 | Heterozygous | 44 | unknown | Wulff et al 2000 | ||||
| 229 | 4 | Heterozygous | 42 | 46 | asymptomatic | Bernardi et al 1996 | |||
| 666 | 1 | Heterozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||
| 667 | 1 | Heterozygous | 30_<50 | UK | Mild | Herrmann et al 2009 | |||