|
Case ID: 753 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 12 | ||||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | Unknown | |||
| Comments | ||||
| Reference | Rizzotto et al 2006 | |||
| 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 |
|||||||||||
| 12 | 3 | Heterozygous | Point | Missense | Exon 1 | c.56T>C | CTG>CCG | 19 | -42 | p.Leu19Pro | Signal Peptide | |
| 83 | 24 | 4.2E-5 | Heterozygous | Point | Missense | Exon 9 | c.934G>A | GTG>ATG | 312 | 252 | p.Val312Met | Serine Protease |