|
Case ID: 813 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 3 | 4 | |||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | Asymptomatic | |||
| Comments | ||||
| Reference | Bolton-Maggs et al 2007 | 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 | |||||||||||
| 41 | 7 | 0.0005875 | Heterozygous | Point | Missense | Exon 5 | c.416G>A | CGG>CAG | 139 | 79 | p.Arg139Gln | EGF1 |
| 147 | 4 | 0.0001102 | Heterozygous | Point | Missense | Exon 9 | c.1151C>T | 384 | 324 | p.Thr384Met | Serine Protease | |