|
Case ID: 25 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 18 | ||||
| FVII:Ag% | 38 | |||
| Reported Clinical Severity | unknown | |||
| Comments | ||||
| Reference | Bernardi et al 1994b | 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 | |||||||||||
| 77 | 5 | Heterozygous | Deletion | Frameshift | Exon 9 | c.849_865del17 | delGCGGGTGGCGCAGGTCA | 284 | 224 | p.Arg284Hisfs*27 | Serine Protease | |
| 94 | 100 | 0.0007488 | Heterozygous | Point | Missense | Exon 9 | c.1061C>T | GCC>GTC | 354 | 294 | p.Ala354Val | Serine Protease |