Case ID: 371 |
FVII:C% | Human | Rabbit | Unknown |
---|---|---|---|---|
<1 | ||||
FVII:Ag% | 25 | |||
Reported Clinical Severity | severe | |||
Comments | ||||
Reference | Giansily-Blaizot et al 2001 | Common Variant Sites tested and found to be as per the reference sequence in both alleles | 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 | |||||||||||
18 | 1 | Heterozygous | Point | Missense | Exon 3 | c.226G>A | GAG>AAG | 76 | 16 | p.Glu76Lys | Gla | |
29 | 1 | Heterozygous | Point | Intronic | Intron 4 | c.316+5G>A | TGgtgag>Tggtgaa | 0 | 0 | |||
990 | 89 | 0.31 | Heterozygous | Indel | Intronic | Exon 8 | c.795_805+26[7] | 0 | 0 | Serine Protease | ||
996 | 80 | 0.23 | Heterozygous | Insertion | Promoter | 5' Flanking | c.-325_-324insCCTATATCCT | 0 | 0 |