Factor VII Variant Database
Case
ID: 173
FVII:C% Human Rabbit Unknown
1
FVII:Ag% 9
Reported Clinical Severity severe
Comments
Reference Millar et al 2000
Common Variant Sites tested and found to be as per the reference sequence in both alleles

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
37 1 Heterozygous Point Missense Exon 5 c.374T>C CTC>CCC 125 65 p.Leu125Pro EGF2
123 8 4.24E-5 Heterozygous Point Missense Exon 9 c.1304G>A GGG>GAG 435 375 p.Gly435Glu Serine Protease
996 80 0.23 Heterozygous Insertion Promoter 5' Flanking c.-325_-324insCCTATATCCT 0 0
998 116 0.1341 Heterozygous Point Missense Exon 9 c.1238G>A CGG>CAG 413 353 p.Arg413Gln Serine Protease