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 | 0.0007488 | 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 |