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Case ID: 492 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 30 | ||||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | Asymptomatic | |||
| Comments | ||||
| Reference | Herrmann et al 2000 | 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 | |||||||||||
| 70 | 6 | 8.3E-6 | Heterozygous | Point | Missense | Exon 8 | c.796G>A | GCG>ACG | 266 | 206 | p.Ala266Thr | Serine Protease |
| 73 | 10 | 0.012 | Heterozygous | Point | Intronic | Intron 8 | c.805+7A>G | ggta>ggtg | 0 | 0 | ||