|
Case ID: 776 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 1 | ||||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | Moderate | |||
| Comments | ||||
| Reference | Kwon et al 2011 | |||
| 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 |
|||||||||||
| 58 | 14 | Heterozygous | Point | Missense | Exon 7 | c.635G>A | CGA>CAA | 212 | 152 | p.Arg212Gln | Activation Peptide | |
| 106 | 14 | 4.23E-5 | Heterozygous | Point | Missense | Exon 9 | c.1165T>G | TGT>GGT | 389 | 329 | p.Cys389Gly | Serine Protease |