Factor XI Variant Database
Variant ID:
309
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
1
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