RF Logo The European Association for Haemophilia and Allied Disorders Factor VII Variant Database EAHAD Coagulation Variant Databases
Factor VII Variant Database
Variant
ID: 115 		cDNA Change c.1224T>G
Amino Acid Change p.His408Gln (Legacy AA No. 348)
Type Point
Effect Missense
Domain Serine Protease
Sequence Context CAT > CAG
Location Exon( 9)
Minor Allele Frequency (MAF) 2.57E-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
250 6 Homozygous 2 2 severe Giansily-Blaizot et al 2001
339 3 Homozygous 5.2 <12 severe Katsumi et al 2000
377 1 Homozygous 3.4 5.9 mild-moderate Shen et al 2001
408 6 Heterozygous 1.2 21 asymptomatic Unpublished Submission
410 7 Heterozygous 23 24 asymptomatic Unpublished Submission
428 2 Heterozygous UK UK Unknown Chu et al 2002
431 2 Heterozygous 8.2 34.1 Mild Ding et al 2005
436 1 Homozygous UK UK Unknown Jiang et al 2011
438 1 Homozygous 2_<6 not in the abstract Asymptomatic Jin et al 2012
439 1 Homozygous 2_<6 not in the abstract Asymptomatic Jin et al 2012
443 2 Heterozygous 2_<6 not in the abstract Moderate Jin et al 2012
445 2 Heterozygous 2 4 Moderate Li et al 2013
757 2 Heterozygous 1,2 21 Unknown Nagaizumi et al 2002