|
Case ID: 480 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 49 | 12 | |||
| FVII:Ag% | 42 | |||
| Reported Clinical Severity | Asymptomatic | |||
| Comments | ||||
| Reference | Mourey et al 2014 | 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 | |||||||||||
| 141 | 7 | 1.69E-5 | Heterozygous | Point | Missense | Exon 9 | c.1010G>A | 337 | 277 | p.Arg337His | Serine Protease | |
| 220 | 1 | 8.4E-6 | Heterozygous | Point | Missense | Exon 9 | c.932C>T | 311 | 251 | p.Pro311Leu | Serine Protease | |