Factor XI Variant Database

Case ID:
1190
FXI:C%
FXI:Ag%
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Not Reported
Comments on CaseUnpublished case
Functional Analysis
Analysis Type
Reference Dossenbach-Glaninger et al 2005

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
60 1 4.0E-6 TBA Unpublished data taken from now-unavailable online version of "Coagulation factor XI: a database of mutations and polymorphism associated with factor XI deficiency" Point Missense Exon 3 c.209C>T LRG_583:g.10799C>T 10799C>T NG_008051.1:g.10799C>T CCC CTC 70 52 p.(Pro70Leu) Apple 1