Case ID: 84 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
50 | ||||
FVII:Ag% | 48 | |||
Reported Clinical Severity | unknown | |||
Comments | ||||
Reference | Bernardi et al 1994a | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 998(M1M1) 990(V6/V6) |
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 | |||||||||||
117 | 3 | Heterozygous | Point | Nonsense | Exon 9 | c.1247G>A | TGG>TAG | 416 | 356 | p.Trp416* | Serine Protease |