|
Case ID: 16 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 46 | ||||
| FVII:Ag% | 73 | |||
| Reported Clinical Severity | unknown | |||
| Comments | ||||
| Reference | Alshinawi et al 1998 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 999(H1H1) 998(M1M1) | |
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 | |||||||||||
| 54 | 4 | Heterozygous | Point | Missense | Exon 7 | c.580C>A | CCA>ACA | 194 | 134 | p.Pro194Thr | Activation Peptide | |