|
Case ID: 764 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 14.5 | 14.5 | 12.5 | ||
| FVII:Ag% | ||||
| Reported Clinical Severity | Unknown | |||
| Comments | ||||
| Reference | Kogiso 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 |
|||||||||||
| 185 | 1 | Heterozygous | Point | Missense | Exon 1 | c.35T>C | 12 | -49 | p.Leu12Pro | Signal Peptide | ||
| 222 | 1 | 8.4E-6 | Heterozygous | Point | Missense | Exon 9 | c.959C>T | 320 | 260 | p.Pro320Leu | Serine Protease | |