Factor XI Variant Database

Case ID:
1111
FXI:C% 3
FXI:Ag% 9
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Asymptomatic
Comments on CaseCase 1111
Functional Analysis
Analysis Type
Reference Zhou et al 2019

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
165 36 1.59E-5 TBA Heterozygous Maternal Point Nonsense Exon 7 c.738G>A LRG_583:g.15410G>A 15410G>A NG_008051.1:g.15410G>A TGG TGA 246 228 p.(Trp246*) Apple 3
308 11 4.95E-5 TBA Heterozygous Paternal Deletion Frameshift Exon 12 c.1325delT LRG_583:g.24695del 24695del NG_008051.1:g.24695del 442 424 p.(Leu442Cysfs*8) Serine Protease