|
Case ID: 360 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 2 | ||||
| FVII:Ag% | 19 | |||
| 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 | |||||||||||
| 50 | 1 | Heterozygous | Point | Missense | Exon 6 | c.485G>A | TGC>TAC | 162 | 102 | p.Cys162Tyr | EGF2 | |
| 996 | 80 | 0.23 | Heterozygous | Insertion | Promoter | 5' Flanking | c.-325_-324insCCTATATCCT | 0 | 0 | |||