Variant ID: 154 |
cDNA Change | c.1196C>T |
---|---|---|
Amino Acid Change | p.Ser399Phe (Legacy AA No. 339) | |
Type | Point | |
Effect | Missense | |
Domain | Serine Protease | |
Sequence Context | TTC > TCC | |
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 | |||||||
797 | 1 | Homozygous | 1.5 | UK | Severe | Fromovich-Amit et al 2005 | |||
798 | 1 | Heterozygous | 42 | UK | Mild | Fromovich-Amit et al 2005 | |||
799 | 1 | Heterozygous | 40 | 56 | Asymptomatic | Fromovich-Amit et al 2005 |