|
Variant ID: 216 |
cDNA Change | c.851G>A |
|---|---|---|
| Amino Acid Change | p.Arg284Gln (Legacy AA No. 224) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | CAG > CGG | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 0.0005478 |
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 | |||||||
| 417 | 2 | Heterozygous | 6 | 7 | Asymptomatic | Borensztajn et al 2005 | |||
| 482 | 2 | Homozygous | <1 | <1 | <1 | Severe | Borensztajn et al 2002 | ||