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Case ID: 417 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 6 | ||||
| FVII:Ag% | 7 | |||
| Reported Clinical Severity | Asymptomatic | |||
| Comments | ||||
| Reference | Borensztajn et al 2005 | 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 | |||||||||||
| 67 | 3 | Heterozygous | Point | Missense | Exon 8 | c.751G>A | GCG>ACG | 251 | 191 | p.Ala251Thr | Serine Protease | |
| 216 | 2 | 0.0005478 | Heterozygous | Point | Missense | Exon 9 | c.851G>A | 284 | 224 | p.Arg284Gln | Serine Protease | |