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Case ID: 704 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 4 | ||||
| FVII:Ag% | 5.5 | |||
| Reported Clinical Severity | Asymptomatic | |||
| Comments | ||||
| Reference | Mota et al 2009 | 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 | |||||||||||
| 196 | 1 | 8.3E-6 | Heterozygous | Point | Missense | Exon 7 | c.593T>C | 198 | 138 | p.Ile198Thr | Activation Peptide | |
| 225 | 3 | Heterozygous | Point | Missense | Exon 9 | c.968T>G | 323 | 263 | p.Leu323Arg | Serine Protease | ||