|
Case ID: 126 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 44 | ||||
| FVII:Ag% | 88 | |||
| 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 | |||||||||||
| 101 | 59 | 0.000519 | Heterozygous | Point | Missense | Exon 9 | c.1091G>A | CGG>CAG | 364 | 304 | p.Arg364Gln | Serine Protease |