Variant ID: 63 |
cDNA Change | c.713G>A |
---|---|---|
Amino Acid Change | p.Cys238Tyr (Legacy AA No. 178) | |
Type | Point | |
Effect | Missense | |
Domain | Serine Protease | |
Sequence Context | TGT > TAT | |
Location | Exon( 8) | |
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 | |||||||
19 | 3 | Heterozygous | 37 | 30 | asymptomatic | Marchetti et al 1993 |