Factor XI Variant Database

Case ID:
Reported Bleeding Severity (based on clinical description, not FXI:C assay) Not Reported
Comments on CaseClinVAR entry
Functional Analysis
Analysis Type
Reference ClinVAR entry

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
213 1 TBA Duplication in "TTTTTT" Duplication Frameshift Exon 9 c.990dup LRG_583:g.19384dup 19384dup NG_008051.1:g.19384dup 331 313 p.(Thr331Tyrfs*28) Apple 4