|
Variant ID: 9 |
cDNA Change | c.10C>T |
|---|---|---|
| Amino Acid Change | p.Gln4* (Legacy AA No. -57) | |
| Type | Point | |
| Effect | Nonsense | |
| Domain | Signal Peptide | |
| Sequence Context | CAG > TAG | |
| Location | Exon( 1) | |
| 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 | |||||||
| 213 | 9 | Heterozygous | 08-Dec | unknown | Wulff et al 2000 | ||||
| 499 | 3 | Heterozygous | 10 | UK | Mild | Herrmann et al 2000 | |||