|
Variant ID: 152 |
cDNA Change | c.1171G>T |
|---|---|---|
| Amino Acid Change | p.Gly391Cys (Legacy AA No. 331) | |
| Type | Point | |
| Effect | Missense | |
| Domain | Serine Protease | |
| Sequence Context | TGC > GGC | |
| 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 | |||||||
| 519 | 1 | Homozygous | 1 | UK | Mild | Herrmann et al 2009 | |||