Factor XI Variant Database

Case ID:
FXI:C% <1
FXI:Ag% <1
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Asymptomatic
Comments on CaseEight heterozygous family members genotyped but no phenotypic or clinical details provided
Functional Analysis
Analysis Type
Reference Lin F 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
231 2 TBA Heterozygous Point Nonsense Exon 10 c.1033A>T LRG_583:g.19515A>T 19515A>T NG_008051.1:g.19515A>T AAG TAG 345 327 p.(Lys345*) Apple 4
308 11 4.95E-5 TBA Heterozygous Deletion Frameshift Exon 12 c.1325delT LRG_583:g.24695del 24695del NG_008051.1:g.24695del 442 424 p.(Leu442Cysfs*8) Serine Protease