Variant ID: 227 |
cDNA Change | c.178C>T |
---|---|---|
Amino Acid Change | p.Arg60Cys (Legacy AA No. -1) | |
Type | Point | |
Effect | Missense | |
Domain | Propeptide | |
Sequence Context | TGC > CGG | |
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 | |||||||
686 | 1 | Homozygous | 21 | UK | Mild | Jayandharan et al 2007 |