Case ID: 416 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
4 | ||||
FVII:Ag% | 5 | |||
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 | |||||||||||
207 | 1 | 2.48E-5 | Homozygous | Point | Missense | Exon 8 | c.752C>T | 251 | 191 | p.Ala251Val | Serine Protease |