Variant ID: 205 |
cDNA Change | c.751G>C |
---|---|---|
Amino Acid Change | p.Ala251Pro (Legacy AA No. 191) | |
Type | Point | |
Effect | Missense | |
Domain | Serine Protease | |
Sequence Context | CCG > GCG | |
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 | |||||||
695 | 2 | Heterozygous | <1 | 46 | Severe | Mota et al 2009 |