|
Variant ID: 202 |
cDNA Change | c.66C>T |
|---|---|---|
| Amino Acid Change | p.Gly22Gly (Legacy AA No. -38) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Propeptide | |
| Sequence Context | GGT > GGC | |
| Location | Exon( 1) | |
| Minor Allele Frequency (MAF) | 0.0005191 |
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 | |||||||
| 805 | 1 | Heterozygous | UK | UK | Mild | Elmahmoudi et al 2012 | |||