Variant ID: 158 |
cDNA Change | c.1240G>T |
---|---|---|
Amino Acid Change | p.Gly414Cys (Legacy AA No. 354) | |
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 | |||||||
760 | 1 | Homozygous | 5 | 7.3 | Mild | Takamiya et al 2004 |