Factor XI Variant Database
Variant ID:
Type Point
Effect Missense
cDNA Change c.1289C>T
LRG Change LRG_583:g.23282C>T
Genomic Change 23282C>T
Genomic HGVS Change NG_008051.1:g.23282C>T
Amino Acid Change p.(Ala430Val) (Legacy AA No. 412)
Domain Serine Protease
Codon Change GCT GTT
Location Exon 11
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 Ala430 adjacent to active site triad His431

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
271 Case 271
Heterozygous <1 1 Asymptomatic Hill et al 2005
272 Parent of case 271
Heterozygous 68 Asymptomatic Hill et al 2005
94 Menorrhagia: facial bruising and epistaxis after dental treatment
Heterozygous 48 39 Mild Mitchell et al 1999