Case ID: 119 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
44 | ||||
FVII:Ag% | 92 | |||
Reported Clinical Severity | asymptomatic | |||
Comments | ||||
Reference | Bernardi et al 1996 | 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 | |||||||||||
95 | 2 | Heterozygous | Point | Missense | Exon 9 | c.1072A>G | ATG>GTG | 358 | 298 | p.Met358Val | Serine Protease |