Factor XI Variant Database

Case ID:
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Not Reported
Comments on CaseVariant found in NGS screen
Functional Analysis
Analysis Type
Reference Abuli et al 2016

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
212 1 TBA Deletion in "TTTTTT" Deletion Frameshift Exon 9 c.990delT LRG_583:g.19384del 19384del NG_008051.1:g.19384del 331 313 p.(Phe330Leufs*19) Apple 4