Variant ID: 169 |
cDNA Change | c.160G>A |
---|---|---|
Amino Acid Change | p.Val54Ile (Legacy AA No. -6) | |
Type | Point | |
Effect | Missense | |
Domain | Propeptide | |
Sequence Context | ATC > GTC | |
Location | Exon( 3) | |
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 | |||||||
577 | 2 | Heterozygous | 1 | UK | Severe | Herrmann et al 2009 |