|
Case ID: 797 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 1.5 | ||||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | Severe | |||
| Comments | ||||
| Reference | Fromovich-Amit et al 2005 | 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 | |||||||||||
| 154 | 3 | Homozygous | Point | Missense | Exon 9 | c.1196C>T | 399 | 339 | p.Ser399Phe | Serine Protease | ||