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Case ID: 767 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <10 | ||||
| FVII:Ag% | UK | |||
| Reported Clinical Severity | Severe | |||
| Comments | ||||
| Reference | Lee et al 2008 | 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 | |||||||||||
| 91 | 10 | Heterozygous | Point | Missense | Exon 9 | c.1027G>A | GGC>AGC | 343 | 283 | p.Gly343Ser | Serine Protease | |
| 184 | 5 | Heterozygous | Point | Nonsense | Exon 5 | c.345C>A | 115 | 55 | p.Cys115* | EGF1 | ||