|
Case ID: 810 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 33 | 33 | |||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | Mild | |||
| Comments | ||||
| Reference | Cutler et al 2005 | 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 | |||||||||||
| 55 | 14 | 8.3E-6 | Heterozygous | Point | Missense | Exon 7 | c.583T>C | TGT>CGT | 195 | 135 | p.Cys195Arg | Activation Peptide |