Factor XI Variant Database
Variant ID:
292
Type Duplication
Effect Frameshift
cDNA Change c.1275_1281dup
LRG Change LRG_583:g.23268_23274dup
Genomic Change 23268_23274dup
Genomic HGVS Change NG_008051.1:g.23268_23274dup
Amino Acid Change p.(Thr428Aspfs*15) (Legacy AA No. 410)
Domain Serine Protease
Codon Change
Location Exon 11
Minor Allele Frequency (MAF)
Pathogenicity (ACMG)Definition Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic TBA
Comments on Variant

For missense variants click Main Menu AA Alignments link to view amino-acid sequence comparison.

The details of the cases reported with the above variant are listed below


Case ID Comments on Case Other Variants
found in case
Genotype FXI:C (%) FXI:Ag (%) Reported Bleeding Severity (based on clinical description, not FXI:C assay) Reference
1260 ClinVAR entry
-
Not Reported ClinVAR entry