|
Case ID: 456 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 5 | ||||
| FVII:Ag% | 7 | |||
| Reported Clinical Severity | Asymptomatic | |||
| Comments | ||||
| Reference | Giansily-Blaizot et al 2001 | 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 | |||||||||||
| 80 | 38 | 0.0001515 | Heterozygous | Point | Missense | Exon 9 | c.911C>T | GCG>GTG | 304 | 244 | p.Ala304Val | Serine Protease |
| 161 | 1 | 5.09E-5 | Heterozygous | Point | Missense | Exon 9 | c.1285G>A | 429 | 369 | p.Ala429Thr | Serine Protease | |