Factor XI Variant Database

Case ID:
FXI:C% 7
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Mild
Comments on CaseEasy bruising
Functional Analysis
Analysis Type
Reference Lin HY et al 2020

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
186 42 8.13E-5 TBA Heterozygous Point Nonsense Exon 8 c.841C>T LRG_583:g.19134C>T 19134C>T NG_008051.1:g.19134C>T CAA TAA 281 263 p.(Gln281*) Apple 3