|
Variant ID: 56 |
cDNA Change | c.589A>G |
|---|---|---|
| Amino Acid Change | p.Lys197Glu (Legacy AA No. 137) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Activation Peptide | |
| Sequence Context | AAA > GAA | |
| Location | Exon( 7) | |
| 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 | |||||||
| 17 | 1 | Heterozygous | <1 | 18 | asymptomatic | Takamiya et al 1993 | other allele is not determined | ||