|
Variant ID: 82 |
cDNA Change | c.920G>A |
|---|---|---|
| Amino Acid Change | p.Arg307His (Legacy AA No. 247) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | CGC > CAC | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 2.52E-5 |
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 | |||||||
| 52 | 1 | Homozygous | 24 | 28 | 26 | asymptomatic | Ohiwa et al 1994 | FVII MIE | |
| 584 | 1 | Heterozygous | 30_<50 | UK | Moderate | Herrmann et al 2009 | |||