Case ID: 419 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
25 | ||||
FVII:Ag% | 95 | |||
Reported Clinical Severity | Asymptomatic | |||
Comments | ||||
Reference | Borensztajn et al 2005 | 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 | |||||||||||
219 | 1 | Homozygous | Point | Missense | Exon 9 | c.895A>C | 299 | 239 | p.Thr299Pro | Serine Protease |