|
Variant ID: 40 |
cDNA Change | c.415C>T |
|---|---|---|
| Amino Acid Change | p.Arg139Trp (Legacy AA No. 79) | |
| Type | Point | |
| Effect | Missense | |
| Domain | EGF1 | |
| Sequence Context | CGG > TGG | |
| Location | Exon( 5) | |
| Minor Allele Frequency (MAF) | 8.3E-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 | |||||||
| 302 | 4 | Heterozygous | 10 | 10 | 52 | asymptomatic | Takamiya et al 1993 | ||