Factor XI Variant Database

Case ID:
302
FXI:C% 35
FXI:Ag%
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Asymptomatic
Comments on Case
Functional Analysis
Analysis Type
Reference Quelin et al 2005

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
176 2 5.97E-5 TBA Heterozygous Point Missense Exon 8 c.783G>C LRG_583:g.19076G>C 19076G>C NG_008051.1:g.19076G>C GAG GAC 261 243 p.(Glu261Asp) Apple 3
357 17 9.55E-5 TBA Studies with recombinant variant (analagous to chymotrypsin Pro161) indicate destabilisation of active site oxyanion hole: one report states variant appears to be deficient in activation by FXIIa: clear evidence of founder effect for some cases Heterozygous Point Missense Exon 14 c.1613C>T LRG_583:g.26757C>T 26757C>T NG_008051.1:g.26757C>T CCC CTC 538 520 p.(Pro538Leu) Serine Protease