Factor XI Variant Database
Variant ID:
296
Type Point
Effect Missense
cDNA Change c.1288G>A
LRG Change LRG_583:g.23281G>A
Genomic Change 23281G>A
Genomic HGVS Change NG_008051.1:g.23281G>A
Amino Acid Change p.(Ala430Thr) (Legacy AA No. 412)
Domain Serine Protease
Codon Change GCT ACT
Location Exon 11
Minor Allele Frequency (MAF) 7.08E-5
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
449 Case 449: spontaneous epistaxis and menorrhagia: postpartum and post-surgical bleeding
1
Heterozygous 2 2 Moderate Castaman et al 2008B
451 Mother of case 449
-
Heterozygous 46 53 Asymptomatic Castaman et al 2008B
453 Son of case 449: epistaxis and easy bruising
-
Heterozygous 37 37 Mild Castaman et al 2008B
465 Menorrhagia; gingival bleeding and easy bruising: excessive bleeding following dental extractions
1
Heterozygous 7 7 Mild De Raucourt et al 2008
468 Previous unspecified bleeding history
-
Homozygous <2 Not Reported Duncan et al 2008
794 Case 794
1
Heterozygous 2 5 Asymptomatic Liu et al 2015
796 Mother of Case 794
-
Heterozygous 49 Not Reported Liu et al 2015
865
1
Heterozygous 2 Asymptomatic Shao et al 2016