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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 | |