RF Logo The European Association for Haemophilia and Allied Disorders Factor VII Variant Database EAHAD Coagulation Variant Databases
Factor VII Variant Database
Variant
ID: 73 		cDNA Change c.805+7A>G
Amino Acid Change (Legacy AA No. 0)
Type Point
Effect Intronic
Domain
Sequence Context
Location Intron( 8)
Minor Allele Frequency (MAF) 0.012

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
22 6 Heterozygous 43 42 asymptomatic Bernardi et al 1993
227 1 Heterozygous unknown Wulff et al 2000
448 2 Heterozygous UK UK UK Unknown Li et al 2015
465 2 Heterozygous 41 84 Marty et al 2008 thrombotic episode
466 1 Homozygous 49 UK Marty et al 2008 thrombotic episode
482 2 Homozygous <1 <1 <1 Severe Borensztajn et al 2002
492 2 Heterozygous 30 UK Asymptomatic Herrmann et al 2000
504 2 Heterozygous 23 52 Asymptomatic Herrmann et al 2000
508 2 Heterozygous 5_<10 UK Mild Herrmann et al 2000
509 2 Heterozygous 41 UK Asymptomatic Herrmann et al 2000