|
Variant ID: 66 |
cDNA Change | c.722C>A |
|---|---|---|
| Amino Acid Change | p.Thr241Asn (Legacy AA No. 181) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | ACC > AAC | |
| Location | Exon( 8) | |
| 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 | |||||||
| 317 | 3 | Heterozygous | 1 | 1 | mild | Millar et al 2000 | |||
| 432 | 2 | Heterozygous | UK | UK | Unknown | Tu et al 2006 | |||