|
Variant ID: 7 |
cDNA Change | c.1A>G |
|---|---|---|
| Amino Acid Change | p.Met1Val (Legacy AA No. -60) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Signal Peptide | |
| Sequence Context | ATG > GTG | |
| Location | Exon( 1) | |
| Minor Allele Frequency (MAF) | 7.89E-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 | |||||||
| 359 | 5 | Heterozygous | 2 | mild | Giansily-Blaizot et al 2001 | other mutation unknown | |||