Factor XI Variant Database

Case ID:
162
FXI:C%
FXI:Ag%
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Not Reported
Comments on CaseConference abstract: "mild deficiency"
Functional Analysis
Analysis Type
ReferenceBolton-Maggs et al 2003

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
333 7 TBA Recombinant variant poorly expressed: variant abolishes N-linked glycosylation site known to be utilised in vivo; however requirement appears to be for Thr (or Ser) but not for glycosylation Heterozygous Point Missense Exon 12 c.1478C>T LRG_583:g.24848C>T 24848C>T NG_008051.1:g.24848C>T ACA ATA 493 475 p.(Thr493Ile) Serine Protease