Factor XI Variant Database

Case ID:
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Not Reported
Comments on CaseConference abstract
Functional Analysis
Analysis Type
ReferenceBolton-Maggs et al 2003

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
154 6 TBA Abolition of Apple 3 disulphide link Cys230-Cys236 Homozygous Point Missense Exon 7 c.688T>C LRG_583:g.15360T>C 15360T>C NG_008051.1:g.15360T>C TGC CGC 230 212 p.(Cys230Arg) Apple 3