Variant ID: 99 |
cDNA Change | c.1088C>G |
---|---|---|
Amino Acid Change | p.Pro363Arg (Legacy AA No. 303) | |
Type | Point | |
Effect | Missense | |
Domain | Serine Protease | |
Sequence Context | CCC > CGC | |
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 | |||||||
238 | 7 | Heterozygous | 15 | 60 | asymptomatic | Wulff et al 2000 | |||
506 | 2 | Heterozygous | 15 | 60 | Asymptomatic | Herrmann et al 2000 |