|
Case ID: 805 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| UK | ||||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | Mild | |||
| Comments | ||||
| Reference | Elmahmoudi et al 2012 | 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 | |||||||||||
| 202 | 1 | 0.0005191 | Heterozygous | Point | Missense | Exon 1 | c.66C>T | 22 | -38 | p.Gly22Gly | Propeptide | |