Variant ID: 142 |
cDNA Change | c.1030T>C |
---|---|---|
Amino Acid Change | p.Trp344Arg (Legacy AA No. 284) | |
Type | Point | |
Effect | Missense | |
Domain | Serine Protease | |
Sequence Context | CGG > TGG | |
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 | |||||||
708 | 1 | Heterozygous | 2.8 | 65 | Mild | Mota et al 2009 |