|
Case ID: 818 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 38 | ||||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | ||||
| Comments | ||||
| Reference | Traynis et al 2006 | 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 | |||||||||||
| 146 | 3 | 0.0003057 | Heterozygous | Point | Missense | Exon 9 | c.1123C>T | 375 | 315 | p.Arg375Trp | Serine Protease | |