Factor XI Variant Database

Case ID:
FXI:C% <1
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Moderate
Comments on CaseConsanguineous parents: moderate haemorrhage after oral surgery
Functional Analysis
Analysis Type
Reference Fard-Esfahani 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
214 1 TBA Homozygous Point Missense Exon 9 c.992C>T LRG_583:g.19386C>T 19386C>T NG_008051.1:g.19386C>T ACC ATC 331 313 p.(Thr331Ile) Apple 4