|
Variant ID: 61 |
cDNA Change | c.681G>T |
|---|---|---|
| Amino Acid Change | p.Gln227His (Legacy AA No. 167) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | CAGgt > CATgt | |
| 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 | |||||||
| 282 | 4 | Heterozygous | <1 | <1 | severe | Shen et al 2001 | |||