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Case ID: 787 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 7.5 | ||||
| FVII:Ag% | 23 | |||
| Reported Clinical Severity | Asymptomatic | |||
| Comments | ||||
| Reference | Kavlie et al 2004 | 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 | |||||||||||
| 69 | 2 | 1.65E-5 | Heterozygous | Point | Missense | Exon 8 | c.791T>C | CTG>CCG | 264 | 204 | p.Leu264Pro | Serine Protease |