|
Case ID: 355 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| <1 | ||||
| FVII:Ag% | 64 | |||
| Reported Clinical Severity | asymptomatic | |||
| Comments | ||||
| Reference | Giansily-Blaizot et al 2001 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 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 | |||||||||||
| 49 | 56 | 0.0001376 | Heterozygous | Point | Missense | Exon 6 | c.479A>G | CAG>CGG | 160 | 100 | p.Gln160Arg | EGF2 |
| 107 | 13 | 2.54E-5 | Heterozygous | Point | Missense | Exon 9 | c.1171G>A | GGC>AGC | 391 | 331 | p.Gly391Ser | Serine Protease |
| 996 | 80 | 0.23 | Homozygous | Insertion | Promoter | 5' Flanking | c.-325_-324insCCTATATCCT | 0 | 0 | |||