Factor XI Variant Database

Case ID:
449
FXI:C% 2
FXI:Ag% 2
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Moderate
Comments on CaseCase 449: spontaneous epistaxis and menorrhagia: postpartum and post-surgical bleeding
Functional Analysis
Analysis Type
Reference Castaman et al 2008B

The details of the variants found in this case are listed below


Variant ID No. of Cases Minor Allele Frequency Pathogenicity (ACMG)Definition Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic Comments on individual Variant Genotype of Variant Heterozygous Allele Common Variant Alleles (Legacy) Type Effect Location in gene Variant (cDNA) Variant (LRG) Variant (Genomic) Variant (Genomic HGVS) Codon Change Amino Acid No Protein Change Protein Domain
HGVS Legacy
195 90 0.0010501 TBA "Type III" Ashkenazi Jewish variant: recombinant expression suggests reduced expression due to defect in dimerisation but still active in coagulation Heterozygous Point Missense Exon 9 c.901T>C LRG_583:g.19295T>C 19295T>C NG_008051.1:g.19295T>C TTC CTC 301 283 p.(Phe301Leu) Apple 4
296 8 7.08E-5 TBA Heterozygous Point Missense Exon 11 c.1288G>A LRG_583:g.23281G>A 23281G>A NG_008051.1:g.23281G>A GCT ACT 430 412 p.(Ala430Thr) Serine Protease