Factor XI Variant Database

Case ID:
589
FXI:C% 28
FXI:Ag% 27
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Mild
Comments on Case"Mild" defined as mildly affected or asymptomatic
Functional Analysis Yes
Analysis Type Thrombin generation tests
Reference Rugeri et al 2010

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
42 2 3.58E-5 TBA Secretion defect with dominant negative dimerisation effect suggested Heterozygous Point Missense Exon 3 c.127G>A LRG_583:g.10717G>A 10717G>A NG_008051.1:g.10717G>A GCC ACC 43 25 p.(Ala43Thr) Apple 1
402 1 0.0001592 TBA Heterozygous Point Missense Exon 15 c.1858G>C LRG_583:g.27631G>C 27631G>C NG_008051.1:g.27631G>C GAG CAG 620 602 p.(Glu620Gln) Serine Protease