Factor XI Variant Database

Case ID:
794
FXI:C% 2
FXI:Ag% 5
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Asymptomatic
Comments on CaseCase 794
Functional Analysis
Analysis Type
Reference Liu et al 2015

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
37 2 TBA Heterozygous Point Missense Exon 3 c.119C>T LRG_583:g.10709C>T 10709C>T NG_008051.1:g.10709C>T ACA ATA 40 22 p.(Thr40Ile) Apple 1
296 8 7.08E-5 TBA Heterozygous Point Missense Exon 11 c.1288G>A LRG_583:g.23281G>A 23281G>A NG_008051.1:g.23281G>A GCT ACT 430 412 p.(Ala430Thr) Serine Protease