Factor XI Variant Database

Case ID:
974
FXI:C% 34
FXI:Ag%
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Asymptomatic
Comments on CaseCase 974
Functional Analysis
Analysis Type
Reference Tiscia et al 2017

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 Heterozygous Maternal 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