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Case ID: 750 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 26 | ||||
| FVII:Ag% | 67 | |||
| Reported Clinical Severity | Asymptomatic | |||
| Comments | ||||
| Reference | Furlan Freguia 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 | |||||||||||
| 101 | 59 | 0.000519 | Heterozygous | Point | Missense | Exon 9 | c.1091G>A | CGG>CAG | 364 | 304 | p.Arg364Gln | Serine Protease |
| 146 | 3 | 0.0003057 | Heterozygous | Point | Missense | Exon 9 | c.1123C>T | 375 | 315 | p.Arg375Trp | Serine Protease | |