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Case ID: 266 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 40 | 100 (bovine) | |||
| FVII:Ag% | 70 | |||
| Reported Clinical Severity | moderate | |||
| Comments | ||||
| Reference | Marchetti et al 1992 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | ||
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 | |||||||||||
| 80 | 38 | 0.0001515 | Heterozygous | Point | Missense | Exon 9 | c.911C>T | GCG>GTG | 304 | 244 | p.Ala304Val | Serine Protease |
| 101 | 59 | 0.000519 | Heterozygous | Point | Missense | Exon 9 | c.1091G>A | CGG>CAG | 364 | 304 | p.Arg364Gln | Serine Protease |
| 990 | 89 | 0.31 | Homozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | Serine Protease | ||