|
Case ID: 89 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <1 | ||||
| FVII:Ag% | 100 | |||
| Reported Clinical Severity | severe | |||
| Comments | ||||
| Reference | Chaing et al 1994 | |||
| 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 |
|||||||||||
| 41 | 7 | 0.000588 | Homozygous | Point | Missense | Exon 5 | c.416G>A | CGG>CAG | 139 | 79 | p.Arg139Gln | EGF1 |
| 58 | 14 | Homozygous | Point | Missense | Exon 7 | c.635G>A | CGA>CAA | 212 | 152 | p.Arg212Gln | Activation Peptide | |