|
Case ID: 220 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 2 to 9 | ||||
| FVII:Ag% | ||||
| Reported Clinical Severity | mild | |||
| Comments | ||||
| Reference | Wulff et al 2000 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 993(G1G1) 999(H1H1) 998(M1M1) 995(P1P1) | |
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 | |||||||||||
| 34 | 2 | Heterozygous | Point | Missense | Exon 5 | c.358T>C | TCC>CCC | 120 | 60 | p.Ser120Pro | EGF1 | |
| 990 | 89 | 0.31 | Homozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | Serine Protease | ||