Factor XI Variant Database

Case ID:
FXI:C% 50
FXI:Ag% 56
Reported Bleeding Severity (based on clinical description, not FXI:C assay) See case comments
Comments on Case"Bleeder": publication divides cases in "Bleeder" and "Nonbleeder"
Functional Analysis
Analysis Type
Reference Gueguen et al 2012B

The details of the variants found in this case are listed below

Variant ID No. of Cases Minor Allele Frequency Pathogenicity (ACMG)Definition Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic Comments on individual Variant Genotype of Variant Heterozygous Allele Common Variant Alleles (Legacy) Type Effect Location in gene Variant (cDNA) Variant (LRG) Variant (Genomic) Variant (Genomic HGVS) Codon Change Amino Acid No Protein Change Protein Domain
HGVS Legacy
152 1 2.83E-5 TBA Heterozygous Point Missense Exon 7 c.683G>A LRG_583:g.15355G>A 15355G>A NG_008051.1:g.15355G>A CGA CAA 228 210 p.(Arg228Gln) Apple 3