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Case ID: 334 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 2 | ||||
| FVII:Ag% | 49 | |||
| Reported Clinical Severity | moderate | |||
| Comments | ||||
| Reference | Au 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 | |||||||||||
| 36 | 1 | Heterozygous | Point | Nonsense | Exon 5 | c.363C>A | TGC>TGA | 121 | 61 | p.Cys121* | EGF1 | |
| 106 | 14 | 4.23E-5 | Heterozygous | Point | Missense | Exon 9 | c.1165T>G | TGT>GGT | 389 | 329 | p.Cys389Gly | Serine Protease |