|
Variant ID: 86 |
cDNA Change | c.995C>T |
|---|---|---|
| Amino Acid Change | p.Thr332Met (Legacy AA No. 272) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | ACG > ATG | |
| Location | Exon( 9) | |
| Minor Allele Frequency (MAF) | 0.0001347 |
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 | |||||||
| 186 | 4 | Heterozygous | 7 | 43 | unknown | Millar et al 2000 | |||