Factor XI Variant Database

Case ID:
554
FXI:C% 35
FXI:Ag% 35
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Not Reported
Comments on Case
Functional Analysis Yes
Analysis Type Molecular modeling
Reference Saunders et al 2009

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
297 1 TBA Heterozygous Point Missense Exon 11 c.1288G>T LRG_583:g.23281G>T 23281G>T NG_008051.1:g.23281G>T GCT TCT 430 412 p.(Ala430Ser) Serine Protease