|
Case ID: 812 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 42 | 42 | |||
| 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 | |||||||||||
| 94 | 100 | 0.0007488 | Heterozygous | Point | Missense | Exon 9 | c.1061C>T | GCC>GTC | 354 | 294 | p.Ala354Val | Serine Protease |