|
Case ID: 472 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 2 | ||||
| FVII:Ag% | 85 | |||
| Reported Clinical Severity | Moderate | |||
| Comments | ||||
| Reference | Borhany et al 2013 | |||
| 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 |
|||||||||||
| 144 | 1 | Homozygous | Point | Missense | Exon 9 | c.1069C>T | 357 | 297 | p.Leu357Phe | Serine Protease | ||