Factor XI Variant Database
Variant ID:
42
Type Point
Effect Missense
cDNA Change c.127G>A
LRG Change LRG_583:g.10717G>A
Genomic Change 10717G>A
Genomic HGVS Change NG_008051.1:g.10717G>A
Amino Acid Change p.(Ala43Thr) (Legacy AA No. 25)
Domain Apple 1
Codon Change GCC ACC
Location Exon 3
Minor Allele Frequency (MAF) 3.58E-5
Pathogenicity (ACMG)Definition Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic TBA
Comments on Variant Secretion defect with dominant negative dimerisation effect suggested

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
589 "Mild" defined as mildly affected or asymptomatic
1
Heterozygous 28 27 Mild Rugeri et al 2010
606
-
Heterozygous 33 Asymptomatic Dai et al 2011