Factor XI Variant Database

Case ID:
683
FXI:C% 56
FXI:Ag% 157
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Asymptomatic
Comments on CaseSon of case 681
Functional Analysis
Analysis Type
Reference Castaman et al 2013

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
106 8 0.000138 TBA Suggested CRM +ve phenotype Heterozygous Point Missense Exon 5 c.434A>G LRG_583:g.13261A>G 13261A>G NG_008051.1:g.13261A>G CAC CGC 145 127 p.(His145Arg) Apple 2