RF Logo The European Association for Haemophilia and Allied Disorders Factor VII Variant Database EAHAD Coagulation Variant Databases
Factor VII Variant Database
Variant
ID: 89 		cDNA Change c.1021G>T
Amino Acid Change p.Val341Phe (Legacy AA No. 281)
Type Point
Effect Missense
Domain Serine Protease
Sequence Context GTC > TTC
Location Exon( 9)
Minor Allele Frequency (MAF)

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
168 9 Heterozygous <1 10 unknown Wulff et al 2000
241 2 Homozygous 17 unknown Herrmann et al 1997
488 2 Heterozygous 4 30 Mild Herrmann et al 2000
493 3 Heterozygous <1 UK Mild Herrmann et al 2000
497 3 Heterozygous 5 UK Moderate Herrmann et al 2000
565 2 Heterozygous 7 UK Severe Herrmann et al 2009
581 3 Heterozygous 17 UK Severe Herrmann et al 2009
668 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
669 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
670 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
671 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
672 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
673 1 Heterozygous UK UK Asymptomatic Herrmann et al 2009
674 1 Heterozygous 30_<50 UK Moderate Herrmann et al 2009
748 2 Heterozygous 5 29 Mariani et al 2003 Haemorrhages and Thrombosis