|
Case ID: 563 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 1 | ||||
| FVII:Ag% | UK | |||
| 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 |
|||||||||||
| 39 | 4 | Heterozygous | Point | Missense | Exon 5 | c.413G>A | GGC>GAC | 138 | 78 | p.Gly138Asp | EGF1 | |
| 68 | 4 | Heterozygous | Point | Missense | Exon 8 | c.761G>A | TGT>TAT | 254 | 194 | p.Cys254Tyr | Serine Protease | |