Case ID: 397 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
16 | <5 | 60 (bovine) | ||
FVII:Ag% | 87 | |||
Reported Clinical Severity | asymptomatic | |||
Comments | ||||
Reference | Matsushita et al 1994 | 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 | |||||||||||
100 | 5 | 1.7E-5 | Homozygous | Point | Missense | Exon 9 | c.1090C>T | CGG>TGG | 364 | 304 | p.Arg364Trp | Serine Protease |