Factor XI Variant Database
Variant ID:
152
Type Point
Effect Missense
cDNA Change c.683G>A
LRG Change LRG_583:g.15355G>A
Genomic Change 15355G>A
Genomic HGVS Change NG_008051.1:g.15355G>A
Amino Acid Change p.(Arg228Gln) (Legacy AA No. 210)
Domain Apple 3
Codon Change CGA CAA
Location Exon 7
Minor Allele Frequency (MAF) 2.83E-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
632 "Bleeder": publication divides cases in "Bleeder" and "Nonbleeder"
-
Heterozygous 50 56 See case comments Gueguen et al 2012B