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Case ID: 484 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 3 | ||||
| FVII:Ag% | 34 | |||
| Reported Clinical Severity | Moderate | |||
| Comments | ||||
| Reference | Chafa et al 2004 | 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 | |||||||||||
| 102 | 38 | 4.25E-5 | Heterozygous | Point | Missense | Exon 9 | c.1109G>T | TGC>TTC | 370 | 310 | p.Cys370Phe | Serine Protease |
| 186 | 2 | Heterozygous | Point | Nonsense | Exon 5 | c.396C>A | 132 | 72 | p.Cys132* | EGF1 | ||