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Case ID: 630 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| UK | ||||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | Asymptomatic | |||
| 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 | |||||||||||
| 76 | 10 | 4.3E-5 | Heterozygous | Point | Missense | Exon 9 | c.847C>T | CGG>TGG | 283 | 223 | p.Arg283Trp | Serine Protease |