Variant ID: 36 |
cDNA Change | c.363C>A |
---|---|---|
Amino Acid Change | p.Cys121* (Legacy AA No. 61) | |
Type | Point | |
Effect | Nonsense | |
Domain | EGF1 | |
Sequence Context | TGC > TGA | |
Location | Exon( 5) | |
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 | |||||||
334 | 2 | Heterozygous | 2 | 49 | moderate | Au et al 2000 |