Variant ID: 183 |
cDNA Change | c.335C>G |
---|---|---|
Amino Acid Change | p.Ser112* (Legacy AA No. 52) | |
Type | Point | |
Effect | Nonsense | |
Domain | EGF1 | |
Sequence Context | TGA > TCA | |
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 | |||||||
458 | 1 | Homozygous | 1 | UK | Severe | Giansily-Blaizot et al 2003 |