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Case ID: 712 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <1 | ||||
| FVII:Ag% | 50 | |||
| Reported Clinical Severity | Mild | |||
| Comments | ||||
| Reference | Tamary 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 | |||||||||||
| 97 | 3 | Heterozygous | Point | Missense | Exon 9 | c.1079T>C | CTC>CCC | 360 | 300 | p.Leu360Pro | Serine Protease | |
| 102 | 38 | 4.25E-5 | Heterozygous | Point | Missense | Exon 9 | c.1109G>T | TGC>TTC | 370 | 310 | p.Cys370Phe | Serine Protease |