Variant ID: 5 |
cDNA Change | c.-55C>T |
---|---|---|
Amino Acid Change | (Legacy AA No. 0) | |
Type | Point | |
Effect | Promoter | |
Domain | promoter | |
Sequence Context | ||
Location | Flanking( 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 | |||||||
204 | 5 | Homozygous | <1 | <1 | severe | Carew et al 1998 | |||
208 | 7 | Heterozygous | 2 | severe | Giansily-Blaizot et al 2001 | ||||
379 | 3 | Heterozygous | <1 | <1 | severe | Carew et al 1998 | |||
778 | 1 | Heterozygous | 34 | UK | Asymptomatic | Kwon et al 2011 |