Factor XI Variant Database
Variant ID:
Type Point
Effect Missense
cDNA Change c.1326G>C
LRG Change LRG_583:g.24696G>C
Genomic Change 24696G>C
Genomic HGVS Change NG_008051.1:g.24696G>C
Amino Acid Change p.(Leu442Phe) (Legacy AA No. 424)
Domain Serine Protease
Codon Change TTG TTC
Location Exon 12
Minor Allele Frequency (MAF)
Pathogenicity (ACMG)Definition Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic TBA
Comments on Variant

For missense variants click Main Menu AA Alignments link to view amino-acid sequence comparison.

The details of the cases reported with the above variant are listed below

Case ID Comments on Case Other Variants
found in case
Genotype FXI:C (%) FXI:Ag (%) Reported Bleeding Severity (based on clinical description, not FXI:C assay) Reference
684 Case 684: recurrent spontaneous epistaxis
Heterozygous 11 Mild Kim et al 2013
686 Father of case 684
Heterozygous 49 Asymptomatic Kim et al 2013
687 Sister of case 684
Heterozygous 47 Asymptomatic Kim et al 2013