RF Logo The European Association for Haemophilia and Allied Disorders Factor VII Variant Database EAHAD Coagulation Variant Databases
Factor VII Variant Database
Variant
ID: 83 		cDNA Change c.934G>A
Amino Acid Change p.Val312Met (Legacy AA No. 252)
Type Point
Effect Missense
Domain Serine Protease
Sequence Context GTG > ATG
Location Exon( 9)
Minor Allele Frequency (MAF) 4.2E-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
7 4 Heterozygous 3 asymptomatic Millar et al 2000
214 8 Heterozygous 11 asymptomatic Wulff et al 2000
218 8 Heterozygous 4 mild Wulff et al 2000
246 4 Heterozygous 4 1 mild Millar et al 2000
328 8 Heterozygous 9 31 mild Wulff et al 2000
498 2 Heterozygous 11 UK Asymptomatic Herrmann et al 2000
500 2 Heterozygous 4 UK Moderate Herrmann et al 2000
501 3 Heterozygous 10 UK Mild Herrmann et al 2000
651 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
652 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
653 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
654 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
655 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
656 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
657 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
658 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
659 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
660 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
661 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
662 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
663 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
664 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
665 1 Heterozygous >50 UK Mild Herrmann et al 2009
753 2 Heterozygous 12 UK Unknown Rizzotto et al 2006