Case ID: 729 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
<1 | ||||
FVII:Ag% | UK | |||
Reported Clinical Severity | Severe | |||
Comments | ||||
Reference | Landau et al 2009 | Common Variant Sites tested and found to be as per the reference sequence in both alleles |
The details of the variants found in this patient are listed below
Variant ID | No. of Cases | MAF* | Genotype | Type | Effect | Location in gene | Mutation (cDNA) | Sequence Context | Amino Acid | Protein Change | Domain | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HGVS | Legacy | |||||||||||
65 | 2 | Homozygous | Point | Missense | Exon 8 | c.718G>A | GGG>AGG | 240 | 180 | p.Gly240Arg | Serine Protease |