Factor XI Variant Database

Case ID:
FXI:C% 3
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Asymptomatic
Comments on Case
Functional Analysis
Analysis Type
Reference Shao et al 2016

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
308 11 4.95E-5 TBA Heterozygous Deletion Frameshift Exon 12 c.1325delT LRG_583:g.24695del 24695del NG_008051.1:g.24695del 442 424 p.(Leu442Cysfs*8) Serine Protease
349 5 TBA Heterozygous Point Missense Exon 13 c.1556G>C LRG_583:g.25527G>C 25527G>C NG_008051.1:g.25527G>C TGG TCG 519 501 p.(Trp519Ser) Serine Protease