Factor XI Variant Database
Variant ID:
275
Type Point
Effect Missense
cDNA Change c.1214T>A
LRG Change LRG_583:g.23207T>A
Genomic Change 23207T>A
Genomic HGVS Change NG_008051.1:g.23207T>A
Amino Acid Change p.(Leu405Gln) (Legacy AA No. 387)
Domain Serine Protease
Codon Change CTG CAG
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
579 "Severe" defined as injury-related excessive bleeding during surgery or haemorrhage requiring treatment or emergency hospital admission
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Heterozygous 23 37 Severe Rugeri et al 2010