RF Logo The European Association for Haemophilia and Allied Disorders Factor VII Variant Database EAHAD Coagulation Variant Databases
Factor VII Variant Database
Variant
ID: 123 		cDNA Change c.1304G>A
Amino Acid Change p.Gly435Glu (Legacy AA No. 375)
Type Point
Effect Missense
Domain Serine Protease
Sequence Context GGG > GAG
Location Exon( 9)
Minor Allele Frequency (MAF) 4.24E-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
173 4 Heterozygous 1 9 severe Millar et al 2000
353 2 Heterozygous unknown Kavlie et al 1997
521 1 Homozygous 2 45 Severe Herrmann et al 2009
566 2 Heterozygous 4 UK Severe Herrmann et al 2009
569 2 Heterozygous 3 UK Severe Herrmann et al 2009
571 2 Heterozygous 9 UK Severe Herrmann et al 2009
576 1 Heterozygous 1 UK Severe Herrmann et al 2009
742 2 Heterozygous 9 38 Moderate Mariani et al 2003