RF Logo The European Association for Haemophilia and Allied Disorders Factor VII Variant Database EAHAD Coagulation Variant Databases
Factor VII Variant Database
Variant
ID: 55 		cDNA Change c.583T>C
Amino Acid Change p.Cys195Arg (Legacy AA No. 135)
Type Point
Effect Missense
Domain Activation Peptide
Sequence Context TGT > CGT
Location Exon( 7)
Minor Allele Frequency (MAF) 8.3E-6

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
132 7 Heterozygous 5 55 asymptomatic Giansily-Blaizot et al 2001
187 4 Heterozygous 2 6 severe Millar et al 2000
255 3 Homozygous 1 24 unknown Millar et al 2000
312 6 Homozygous 1 to 4 2 unknown Wulff et al 2000
313 2 Heterozygous <1 <1 severe Peyvandi et al 2000b
370 6 Heterozygous 2 7 severe Giansily-Blaizot et al 2001
455 2 Heterozygous <1 7 Severe Giansily-Blaizot et al 2001
460 1 Homozygous 1 3 Severe Giansily-Blaizot et al 2003
463 2 Heterozygous 9 73 Marty et al 2008 Haemorrhages and Thrombosis
505 3 Heterozygous <1 <1 Mild Herrmann et al 2000
507 1 Homozygous 1 2 Severe Herrmann et al 2000
565 2 Heterozygous 7 UK Severe Herrmann et al 2009
579 2 Heterozygous 5 UK Severe Herrmann et al 2009
810 1 Heterozygous 33 33 UK Mild Cutler et al 2005