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Case ID: 457 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 42 | ||||
| FVII:Ag% | 74 | |||
| Reported Clinical Severity | ||||
| Comments | ||||
| Reference | Marty 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 | |||||||||||
| 107 | 13 | 2.54E-5 | Heterozygous | Point | Missense | Exon 9 | c.1171G>A | GGC>AGC | 391 | 331 | p.Gly391Ser | Serine Protease |