|
Case ID: 424 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 62 | 62 | |||
| FVII:Ag% | 65 | |||
| Reported Clinical Severity | Unknown | |||
| Comments | ||||
| Reference | Rodrigues et al 2003 | 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 | |||||||||||
| 197 | 1 | 0.0004889 | Heterozygous | Point | Missense | Exon 7 | c.599T>G | 200 | 140 | p.Ile200Ser | Activation Peptide | |