Factor XI Variant Database
Variant ID:
151
Type Point
Effect Nonsense
cDNA Change c.682C>T
LRG Change LRG_583:g.15354C>T
Genomic Change 15354C>T
Genomic HGVS Change NG_008051.1:g.15354C>T
Amino Acid Change p.(Arg228*) (Legacy AA No. 210)
Domain Apple 3
Codon Change CGA TGA
Location Exon 7
Minor Allele Frequency (MAF) 1.59E-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
238
1
Heterozygous <1 3 Asymptomatic Quelin et al 2004
1152
-
Heterozygous 16 Asymptomatic Zhang et al 2020