Variant ID: 67 |
cDNA Change | c.751G>A |
---|---|---|
Amino Acid Change | p.Ala251Thr (Legacy AA No. 191) | |
Type | Point | |
Effect | Missense | |
Domain | Serine Protease | |
Sequence Context | GCG > ACG | |
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 | |||||||
354 | 5 | Homozygous | <5 | 25 | asymptomatic | Giansily-Blaizot et al 2001 | |||
417 | 2 | Heterozygous | 6 | 7 | Asymptomatic | Borensztajn et al 2005 | |||
515 | 1 | Homozygous | 13 | UK | Mild | Herrmann et al 2009 |