|
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 | |