Factor XI Variant Database

Case ID:
FXI:C% 18
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Asymptomatic
Comments on CasePaternal grandfather of case 1145
Functional Analysis
Analysis Type
Reference Peng et al 2020

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
106 8 0.000138 TBA Suggested CRM +ve phenotype Heterozygous Point Missense Exon 5 c.434A>G LRG_583:g.13261A>G 13261A>G NG_008051.1:g.13261A>G CAC CGC 145 127 p.(His145Arg) Apple 2
285 33 8.0E-6 TBA Cotransfection studies suggest that variant FXI reduces secretion of WT FXI homodimers: suggested dominant negative effect of variant FXI due to recruitment of WT FXI into defective heterodimers: impaired secretion of variant in transient expression system Heterozygous Point Missense Exon 11 c.1253G>T LRG_583:g.23246G>T 23246G>T NG_008051.1:g.23246G>T GGC GTC 418 400 p.(Gly418Val) Serine Protease