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
292 1 TBA Duplication Frameshift Exon 11 c.1275_1281dup LRG_583:g.23268_23274dup 23268_23274dup NG_008051.1:g.23268_23274dup 428 410 p.(Thr428Aspfs*15) Serine Protease