|
Variant ID: 18 |
cDNA Change | c.226G>A |
|---|---|---|
| Amino Acid Change | p.Glu76Lys (Legacy AA No. 16) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Gla | |
| Sequence Context | GAG > AAG | |
| Location | Exon( 3) | |
| Minor Allele Frequency (MAF) |
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 | |||||||
| 371 | 7 | Heterozygous | <1 | 25 | severe | Giansily-Blaizot et al 2001 | |||