|
Variant ID: 44 |
cDNA Change | c.460G>A |
|---|---|---|
| Amino Acid Change | p.Glu154Lys (Legacy AA No. 94) | |
| Type | Point | |
| Effect | Missense | |
| Domain | EGF2 | |
| Sequence Context | GAG > AAG | |
| Location | Exon( 6) | |
| Minor Allele Frequency (MAF) | 8.8E-6 |
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 | |||||||
| 234 | 7 | Homozygous | 13 | unknown | Wulff et al 2000 | ||||
| 512 | 1 | Homozygous | UK | UK | Asymptomatic | Herrmann et al 2009 | |||