Variant ID: 162 |
cDNA Change | c.130G>A |
---|---|---|
Amino Acid Change | p.Val44Ile (Legacy AA No. -16) | |
Type | Point | |
Effect | Missense | |
Domain | Propeptide | |
Sequence Context | ATC > GTC | |
Location | Exon( 2) | |
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 | |||||||
494 | 1 | Homozygous | 4 | UK | Unknown | Herrmann et al 2000 |