Factor XI Variant Database

Case ID:
FXI:C% 48
FXI:Ag% 39
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Mild
Comments on CaseMenorrhagia: facial bruising and epistaxis after dental treatment
Functional Analysis
Analysis Type
Reference Mitchell et al 1999

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
298 3 TBA Ala430 adjacent to active site triad His431 Heterozygous Point Missense Exon 11 c.1289C>T LRG_583:g.23282C>T 23282C>T NG_008051.1:g.23282C>T GCT GTT 430 412 p.(Ala430Val) Serine Protease