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Case ID: 186 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 7 | ||||
| FVII:Ag% | 43 | |||
| Reported Clinical Severity | unknown | |||
| Comments | ||||
| Reference | Millar et al 2000 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) -(C1C1) | |
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 | |||||||||||
| 49 | 56 | 0.0001376 | Heterozygous | Point | Missense | Exon 6 | c.479A>G | CAG>CGG | 160 | 100 | p.Gln160Arg | EGF2 |
| 86 | 1 | 0.0001347 | Heterozygous | Point | Missense | Exon 9 | c.995C>T | ACG>ATG | 332 | 272 | p.Thr332Met | Serine Protease |
| 998 | 116 | 0.1341 | Homozygous | Point | Missense | Exon 9 | c.1238G>A | CGG>CAG | 413 | 353 | p.Arg413Gln | Serine Protease |