RF Logo The European Association for Haemophilia and Allied Disorders Factor VII Variant Database EAHAD Coagulation Variant Databases
Factor VII Variant Database
Variant
ID: 106 		cDNA Change c.1165T>G
Amino Acid Change p.Cys389Gly (Legacy AA No. 329)
Type Point
Effect Missense
Domain Serine Protease
Sequence Context TGT > GGT
Location Exon( 9)
Minor Allele Frequency (MAF) 4.23E-5

The details of the cases reported with the above variant is as below

Case ID Other Variants found in case Genotype FVII:C (%) FVII:Ag (%) Reported Clinical Severity Reference Comments
TF-Unknown TF-Human TF-Rabbit
175 3 Heterozygous 1 19 severe Millar et al 2000
251 2 Heterozygous 1.2 30.4 mild-moderate Shen et al 2001
334 2 Heterozygous 2 49 moderate Au et al 2000
342 1 Homozygous 3 55 mild Wu et al 2000
434 2 Heterozygous 4.4 38.5 Moderate Yu et al 2009
441 2 Heterozygous 2_<6 not in the abstract Asymptomatic Jin et al 2012
442 2 Heterozygous 2_<6 not in the abstract Mild Jin et al 2012
770 2 Heterozygous 1,3 UK Moderate Kwon et al 2011
771 2 Heterozygous 19 UK Asymptomatic Kwon et al 2011
774 2 Heterozygous 1,2 UK Severe Kwon et al 2011
776 2 Heterozygous 1 UK Moderate Kwon et al 2011
777 2 Heterozygous 5 UK Mild Kwon et al 2011
780 1 Heterozygous 3 UK Mild Kwon et al 2011
781 1 Heterozygous 29,5 UK Asymptomatic Kwon et al 2011