Factor XI Variant Database

Case ID:
579
FXI:C% 23
FXI:Ag% 37
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Severe
Comments on Case"Severe" defined as injury-related excessive bleeding during surgery or haemorrhage requiring treatment or emergency hospital admission
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
275 1 TBA Heterozygous Point Missense Exon 11 c.1214T>A LRG_583:g.23207T>A 23207T>A NG_008051.1:g.23207T>A CTG CAG 405 387 p.(Leu405Gln) Serine Protease