|
Case ID: 708 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 2.8 | ||||
| FVII:Ag% | 65 | |||
| Reported Clinical Severity | Mild | |||
| Comments | ||||
| Reference | Mota et al 2009 | 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 | |||||||||||
| 142 | 1 | Heterozygous | Point | Missense | Exon 9 | c.1030T>C | 344 | 284 | p.Trp344Arg | Serine Protease | ||