Factor XI Variant Database

Case ID:
465
FXI:C% 7
FXI:Ag% 7
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Mild
Comments on CaseMenorrhagia; gingival bleeding and easy bruising: excessive bleeding following dental extractions
Functional Analysis Yes
Analysis Type Molecular modeling
Reference De Raucourt et al 2008

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
138 1 TBA Heterozygous Point Missense Exon 7 c.596C>T LRG_583:g.15268C>T 15268C>T NG_008051.1:g.15268C>T GCT GTT 199 181 p.(Ala199Val) Apple 3
296 8 7.08E-5 TBA Heterozygous Point Missense Exon 11 c.1288G>A LRG_583:g.23281G>A 23281G>A NG_008051.1:g.23281G>A GCT ACT 430 412 p.(Ala430Thr) Serine Protease