Factor XI Variant Database
Variant ID:
294
Type Point
Effect Missense
cDNA Change c.1283C>T
LRG Change LRG_583:g.23276C>T
Genomic Change 23276C>T
Genomic HGVS Change NG_008051.1:g.23276C>T
Amino Acid Change p.(Thr428Ile) (Legacy AA No. 410)
Domain Serine Protease
Codon Change ACA ATA
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

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
553
-
Heterozygous 38 Not Reported Saunders et al 2009
821 Consanguineous parents
-
Heterozygous 25 Asymptomatic Kawankar et al 2016