Variant ID: 110 |
cDNA Change | c.1204G>A |
---|---|---|
Amino Acid Change | p.Gly402Arg (Legacy AA No. 342) | |
Type | Point | |
Effect | Missense | |
Domain | Serine Protease | |
Sequence Context | GGG > AGG | |
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 | |||||||
81 | 4 | Heterozygous | 45 | 73 | unknown | Bernardi et al 1994a | |||
144 | 4 | Heterozygous | 35 | 64 | asymptomatic | Bernardi et al 1994a |