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Case ID: 463 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 9 | ||||
| FVII:Ag% | 73 | |||
| Reported Clinical Severity | ||||
| Comments | ||||
| Reference | Marty et al 2008 | 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 | |||||||||||
| 55 | 14 | 8.3E-6 | Heterozygous | Point | Missense | Exon 7 | c.583T>C | TGT>CGT | 195 | 135 | p.Cys195Arg | Activation Peptide |
| 101 | 59 | 0.000519 | Heterozygous | Point | Missense | Exon 9 | c.1091G>A | CGG>CAG | 364 | 304 | p.Arg364Gln | Serine Protease |