RF Logo The European Association for Haemophilia and Allied Disorders Factor VII Variant Database EAHAD Coagulation Variant Databases
Factor VII Variant Database
Variant
ID: 118 		cDNA Change c.1256C>T
Amino Acid Change p.Thr419Met (Legacy AA No. 359)
Type Point
Effect Missense
Domain Serine Protease
Sequence Context ACG > ATG
Location Exon( 9)
Minor Allele Frequency (MAF) 1.7E-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
86 8 Heterozygous 02-Apr unknown Wulff et al 2000
369 3 Heterozygous <1 <1 severe Arbini et al 1996
412 3 Homozygous 1.6 0.8 2 mild Ozawa et al 1997 FVII TOYAMA
233 1 Homozygous <1 <1 mild Peyvandi et al 2000b
174 6 Homozygous 1 2 severe Giansily-Blaizot et al 2001
274 4 Homozygous <1 2 severe Unpublished Submission
375 3 Homozygous <1 severe Unpublished Submission
429 1 Homozygous UK UK Unknown Chu et al 2003
446 1 Homozygous 1.1 UK Moderate Zhang et al 2013
447 1 Homozygous 1.1 UK Moderate Zhang et al 2013
514 1 Homozygous UK UK Asymptomatic Herrmann et al 2009
574 2 Heterozygous 7 UK Severe Herrmann et al 2009
716 1 Homozygous 8 UK Severe Fromovich-Amit et al 2004
762 2 Heterozygous <3 <1 Unknown Okamoto et al 2009
788 1 Homozygous 3 3 UK Moderate Salcioglu et al 2012
791 1 Homozygous 0_<2 0_<2 UK Severe Salcioglu et al 2012
793 1 Heterozygous 4 4 UK Moderate Salcioglu et al 2012
428 2 Heterozygous UK UK Unknown Chu et al 2002
502 2 Heterozygous 2 UK Severe Herrmann et al 2000
579 2 Heterozygous 5 UK Severe Herrmann et al 2009