|
Case ID: 146 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 55 | ||||
| FVII:Ag% | 101 | |||
| 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 | |||||||||||
| 111 | 4 | Heterozygous | Point | Missense | Exon 9 | c.1205G>A | GGG>GAG | 402 | 342 | p.Gly402Glu | Serine Protease | |