Variant ID: 159 |
cDNA Change | c.1264G>T |
---|---|---|
Amino Acid Change | p.Val422Phe (Legacy AA No. 362) | |
Type | Point | |
Effect | Missense | |
Domain | Serine Protease | |
Sequence Context | TTC > GTC | |
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 | |||||||
745 | 2 | Heterozygous | 3 | 58 | Mariani et al 2003 | Haemorrhages and Thrombosis |