Factor XI Variant Database

Case ID:
513
FXI:C% <1
FXI:Ag%
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Mild
Comments on CaseSister of case 514: postoperative bleeding
Functional Analysis
Analysis Type
Reference Quelin et al 2009

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
99 158 0.0008631 TBA "Type II" Ashkenazi Jewish variant Heterozygous Point Nonsense Exon 5 c.403G>T LRG_583:g.13230G>T 13230G>T NG_008051.1:g.13230G>T GAA TAA 135 117 p.(Glu135*) Apple 2
153 4 TBA Abolition of Apple 3 disulphide link Cys230-Cys236 Heterozygous Point Missense Exon 7 c.688T>A LRG_583:g.15360T>A 15360T>A NG_008051.1:g.15360T>A TGC AGC 230 212 p.(Cys230Ser) Apple 3