Factor XI Variant Database

Case ID:
FXI:C% 11
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Mild
Comments on CaseCase 684: recurrent spontaneous epistaxis
Functional Analysis
Analysis Type
Reference Kim et al 2013

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
162 9 1.19E-5 TBA Heterozygous Maternal Point Nonsense Exon 7 c.730C>T LRG_583:g.15402C>T 15402C>T NG_008051.1:g.15402C>T CAG TAG 244 226 p.(Gln244*) Apple 3
309 3 TBA Heterozygous Paternal Point Missense Exon 12 c.1326G>C LRG_583:g.24696G>C 24696G>C NG_008051.1:g.24696G>C TTG TTC 442 424 p.(Leu442Phe) Serine Protease