Variant ID: 146 |
cDNA Change | c.1123C>T |
---|---|---|
Amino Acid Change | p.Arg375Trp (Legacy AA No. 315) | |
Type | Point | |
Effect | Missense | |
Domain | Serine Protease | |
Sequence Context | TGG > CGG | |
Location | Exon( 9) | |
Minor Allele Frequency (MAF) | 0.0003057 |
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 | |||||||
750 | 2 | Heterozygous | 26 | 67 | Asymptomatic | Furlan Freguia et al 2004 | |||
816 | 2 | Heterozygous | 54 | 26 | 67 | Asymptomatic | Pollak et al 2006 | ||
818 | 1 | Heterozygous | 38 | UK | Traynis et al 2006 |