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Case ID: 213 |
FVII:C% | Human | Rabbit | Unknown |
|---|---|---|---|---|
| 08-Dec | ||||
| FVII:Ag% | ||||
| Reported Clinical Severity | unknown | |||
| 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 | |||||||||||
| 9 | 2 | Heterozygous | Point | Nonsense | Exon 1 | c.10C>T | CAG>TAG | 4 | -57 | p.Gln4* | Signal Peptide | |
| 94 | 100 | 0.000749 | Heterozygous | Point | Missense | Exon 9 | c.1061C>T | GCC>GTC | 354 | 294 | p.Ala354Val | Serine Protease |
| 125 | 59 | Heterozygous | Deletion | Frameshift | Exon 9 | c.1391delC | delC | 464 | 404 | p.Pro464Hisfs*32 | Serine Protease | |
| 990 | 89 | 0.31 | Homozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | Serine Protease | ||