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Case ID: 54 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 44 | ||||
| FVII:Ag% | ||||
| Reported Clinical Severity | unknown | |||
| Comments | ||||
| Reference | Wulff et al 2000 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 993(G1G1) 999(H1H1) 998(M1M1) 995(P1P1) 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 | |||||||||||
| 85 | 4 | 3.36E-5 | Heterozygous | Point | Missense | Exon 9 | c.973G>A | GAA>AAA | 325 | 265 | p.Glu325Lys | Serine Protease |