|
Case ID: 85 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 7 | ||||
| FVII:Ag% | 41 | |||
| Reported Clinical Severity | moderate | |||
| Comments | ||||
| Reference | Bernardi et al 1994a | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 998(M1M1) 990(V6/V6) | |
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 | |||||||||||
| 102 | 38 | 4.25E-5 | Heterozygous | Point | Missense | Exon 9 | c.1109G>T | TGC>TTC | 370 | 310 | p.Cys370Phe | Serine Protease |
| 117 | 3 | Heterozygous | Point | Nonsense | Exon 9 | c.1247G>A | TGG>TAG | 416 | 356 | p.Trp416* | Serine Protease | |