Case ID: 387 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
2 | ||||
FVII:Ag% | 62 | |||
Reported Clinical Severity | mild | |||
Comments | ||||
Reference | Giansily-Blaizot et al 2001 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 996(A1A1) 999(H1H1) 994(I1I1) 998(M1M1) |
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 | |||||||||||
14 | 4 | Heterozygous | Point | Intronic | Intron 1 | c.64+5G>A | CAGgtgcg>CAGgtgca | 0 | 0 | |||
64 | 2 | Heterozygous | Point | Missense | Exon 8 | c.715G>C | GGG>CGG | 239 | 179 | p.Gly239Arg | Serine Protease | |
990 | 89 | 0.31 | Heterozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | Serine Protease |