|
Case ID: 193 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 2.4 | ||||
| FVII:Ag% | 17.5 | |||
| Reported Clinical Severity | severe | |||
| Comments | ||||
| Reference | Kavlie et al 1998 | |||
| Common Variant Sites tested and found to be as per the reference sequence in both alleles | 990(V6/V6) | |||
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 |
|||||||||||
| 49 | 56 | 0.0001376 | Homozygous | Point | Missense | Exon 6 | c.479A>G | CAG>CGG | 160 | 100 | p.Gln160Arg | EGF2 |