|
Case ID: 724 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 34 | 34 | |||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | Asymptomatic | |||
| Comments | ||||
| Reference | Fromovich-Amit 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 | |||||||||||
| 79 | 18 | 8.4E-6 | Heterozygous | Point | Missense | Exon 9 | c.910G>A | GCG>ACG | 304 | 244 | p.Ala304Thr | Serine Protease |