Variant ID: 95 |
cDNA Change | c.1072A>G |
---|---|---|
Amino Acid Change | p.Met358Val (Legacy AA No. 298) | |
Type | Point | |
Effect | Missense | |
Domain | Serine Protease | |
Sequence Context | ATG > GTG | |
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 | |||||||
61 | 4 | Heterozygous | 50 | 87 | asymptomatic | Bernardi et al 1996 | |||
119 | 4 | Heterozygous | 44 | 92 | asymptomatic | Bernardi et al 1996 |