Case ID: 218 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
4 | ||||
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 | |||||||||||
28 | 2 | Heterozygous | Point | Intronic | Intron 3 | c.291+5G>T | gtgag>gtgat | 0 | 0 | |||
83 | 24 | 4.2E-5 | Heterozygous | Point | Missense | Exon 9 | c.934G>A | GTG>ATG | 312 | 252 | p.Val312Met | Serine Protease |
990 | 89 | 0.31 | Homozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | Serine Protease |