|
Variant ID: 164 |
cDNA Change | c.1333G>A |
|---|---|---|
| Amino Acid Change | p.Glu445Lys (Legacy AA No. 385) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | AAG > GAG | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 0.0003505 |
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 | |||||||
| 808 | 1 | Heterozygous | 35 | 35 | UK | Mild | Cutler et al 2005 | ||