|
Variant ID: 97 |
cDNA Change | c.1079T>C |
|---|---|---|
| Amino Acid Change | p.Leu360Pro (Legacy AA No. 300) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | CTC > CCC | |
| Location | Exon( 9) | |
| 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 | |||||||
| 712 | 2 | Heterozygous | <1 | 50 | Mild | Tamary et al 2000 | |||
| 721 | 1 | Heterozygous | 0_<2 | 0_<2 | 52 | Mild | Fromovich-Amit et al 2004 | ||