|
Case ID: 516 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 1 | ||||
| FVII:Ag% | 1 | |||
| Reported Clinical Severity | Severe | |||
| Comments | ||||
| Reference | Herrmann et al 2009 | |||
| 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 |
|||||||||||
| 223 | 2 | 8.4E-6 | Homozygous | Point | Missense | Exon 9 | c.961C>T | 321 | 261 | p.Leu321Phe | Serine Protease | |