Variant ID: 189 |
cDNA Change | c.479A>T |
---|---|---|
Amino Acid Change | p.Gln160Leu (Legacy AA No. 100) | |
Type | Point | |
Effect | Missense | |
Domain | EGF2 | |
Sequence Context | CTG > CAG | |
Location | Exon( 6) | |
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 | |||||||
443 | 2 | Heterozygous | 2_<6 | not in the abstract | Moderate | Jin et al 2012 | |||
445 | 2 | Heterozygous | 2 | 4 | Moderate | Li et al 2013 |