Factor VII Variant Database

F7 Common Variants (Polymorphisms)


Variant ID Name Type Effect Location cDNA Change Protein Change Cases Reported MAF* Legacy Nomenclature Comments Known Phenotypic effect
In vivo In vitro
992 rs510317 Point Promoter Flanking (5') c.-402G>A 1 0.2326 NA Comparison of PrASE and Pyrosequencing for SNP Genotyping The rare c.-402A allele was associated with significantly higher FVII:C and FVII:Ag levels than subjects homozygous for the common c.-402G allele (p<0.05) (16038716)" The rare c.-402A allele confers increased transcriptional activity and is associated with increased plasma FVII:C level (10233895). The allelic variant c.-402A showed a statistically significant increase in expression levels (increase of 50.99%) (17292373)"
991 rs510335 Point Promoter Flanking (5') c.-401G>T 1 0.2041 NA In complete allelic association with c.-325_-324ins10 and c.-122C No variant-specific in vivo studies as the c.-401T variant is in complete association with c.-325_-324ins10 (10233895)" The allelic variant c.-401T showed an increase of 39.04% when analyzed alone. By contrast, this effect disappeared when combined with c.-325_-324ins10 (17292373)"
996 rs5742910 Insertion Promoter Flanking (5') c.-325_-324insCCTATATCCT 81 0.23 WT=A1: Var = A2 In linkage disequilibrium with p.Arg413Gln Genetic variation associated with the c.-325_-324ins10 polymorphism contributes to 26% and 23% of the variance of FVII:C and FVII:Ag respectively (8548429)" Decanucleotide insert at c.-325 is shown to reduce promoter activity by 33% compared with wild type (reporter gene constructs in HepG2) (8576177). This was confirmed in both individual and combined allelic variants experiments) (17292373)
995 rs561241 Point Promoter Flanking (5') c.-122T>C 6 0.1436 WT=P1: Var=P2 In complete allelic association with c.-325_-324ins10 and c.-401T (possible exceptions) No in vivo studies as the c.-122C variant is in complete association with c.-325_-324ins10 The allelic variant c.-122C caused a statistically significant reduction in expression level at 39.90% (reporter plasmids containing individual allelic variant) (17292373)"
993 rs6039 Point Intronic Intron (1) c.64+9G>A 7 0.1403992 G73A (DNA numbering): WT=G1: Var=G2 In linkage disequilibrium with p.Arg413Gln Due to the linkage disequilibrium, they could not establish whether the c.64+9G>A allele variant contributed per se to lowering FVII:C levels study (10691850)" There is no in vitro study
999 rs6042 Point Silent Exon (6) c.525C>T p.His175= (H115=) 64 0.1345885 H115=: WT=H1 (or C1): Var=H2 (or C2)
988 VNTR[8] Indel Intronic Exon (8) c.795_805+26[8] 1 NA VNTR[6] is the Wild Type Due to the low frequency of this allele, no large studies were published. Subjects carring an H8 allele showed a high FVIIa level A quantitative analysis of transcripts indicated a parallel decrease of the IVS7 repeat number and mRNA relative expression (VNTR[6] being considered as a reference). VNTR[8] showed higher values than VNTR[6] (10828024)"
989 VNTR[5] Indel Intronic Exon (8) c.795_805+26[5] 0 NA VNTR[6] is the Wild Type Due to the low frequency of this allele, no large studies were published. Subjects with the H5 allele (without c.-325ins10 neither p.413Gln) showed lower FVII levels than controls. A quantitative analysis of transcripts indicated a parallel decrease of the IVS7 repeat number and mRNA relative expression (VNTR[6] being considered as a reference). VNTR[5] showed lower values than VNTR[6] (10828024)"
990 VNTR[7] Indel Intronic Exon (8) c.795_805+26[7] 89 0.31 Var=a (7) or h7 VNTR[6] is the Wild Type Genetic variation associated with the c.795_805+26[7] polymorphism contributes to 17% and 13% of the variance of FVII:C and FVII:Ag respectively (8548429)" A quantitative analysis of transcripts indicated a parallel decrease of the IVS7 repeat number and mRNA relative expression (VNTR[6] being considered as a reference). VNTR[7] showed higher values than VNTR[6] (10828024)"
994 rs6041 Point Intronic Intron (8) c.806-20G>A 45 0.1274271 WT=I1: Var=I2 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
998 rs6046 Point Missense Exon (9) c.1238G>A p.Arg413Gln (R353Q) 116 0.1265056 R353Q: WT=M1: Var=M2 In linkage disequilibrium with the c.-401T/c.-325_-324ins10/c.-122C haplotype Genetic variation associated with the p.Arg413Gln polymorphism contributes to 30% and 23% of the variance of FVII:C and FVII:Ag respectively (8548429; 9409261)" Transient transfection assays with a F7 cDNA containing the base substitution resulting in Gln413 showed a FVII secretion decrease to 74% compared to wild type (9409261)"
*MAF - Minor Allele Frequency (according to 1000 Genomes database).
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