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Case ID: 764 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 14.5 | 14.5 | 12.5 | ||
| FVII:Ag% | ||||
| Reported Clinical Severity | Unknown | |||
| Comments | ||||
| Reference | Kogiso et al 2011 | 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 | |||||||||||
| 185 | 1 | Heterozygous | Point | Missense | Exon 1 | c.35T>C | 12 | -49 | p.Leu12Pro | Signal Peptide | ||
| 222 | 1 | 8.4E-6 | Heterozygous | Point | Missense | Exon 9 | c.959C>T | 320 | 260 | p.Pro320Leu | Serine Protease | |