Factor XI Variant Database

Case ID:
238
FXI:C% <1
FXI:Ag% 3
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Asymptomatic
Comments on Case
Functional Analysis
Analysis Type
Reference Quelin et al 2004

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
151 2 1.59E-5 TBA Heterozygous Point Nonsense Exon 7 c.682C>T LRG_583:g.15354C>T 15354C>T NG_008051.1:g.15354C>T CGA TGA 228 210 p.(Arg228*) Apple 3
235 3 1.19E-5 TBA Additional studies suggest splicing defects resulting from sequence changes in exonic splicing enhancers (ESEs) are responsible for lower circulating FXI in cases: see also commentary by Duga & Asselta 2011 PMID: 21824284 Heterozygous Point Missense Exon 10 c.1060G>A LRG_583:g.19542G>A 19542G>A NG_008051.1:g.19542G>A GGA AGA 354 336 p.(Gly354Arg) Apple 4