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Case ID: 474 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 2 | 2 | |||
| FVII:Ag% | 57 | |||
| Reported Clinical Severity | Moderate | |||
| Comments | ||||
| Reference | Borhany et al 2013 | 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 |
| 174 | 1 | Heterozygous | Point | Missense | Exon 3 | c.245G>A | 82 | 22 | p.Cys82Tyr | Gla | ||