|
Case ID: 352 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <1 | ||||
| FVII:Ag% | ||||
| Reported Clinical Severity | severe | |||
| Comments | ||||
| Reference | Giansily-Blaizot et al 2001 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 999(H1H1) 994(I1I1) 998(M1M1) | |
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 | |||||||||||
| 31 | 1 | Heterozygous | Point | Nonsense | Exon 5 | c.325C>T | CAG>TAG | 109 | 49 | p.Gln109* | EGF1 | |
| 49 | 56 | 0.0001376 | Heterozygous | Point | Missense | Exon 6 | c.479A>G | CAG>CGG | 160 | 100 | p.Gln160Arg | EGF2 |