Factor XI Variant Database
Variant ID:
81
Type Point
Effect Missense
cDNA Change c.296C>A
LRG Change LRG_583:g.12185C>A
Genomic Change 12185C>A
Genomic HGVS Change NG_008051.1:g.12185C>A
Amino Acid Change p.(Ser99Tyr) (Legacy AA No. 81)
Domain Apple 1
Codon Change TCT TAT
Location Exon 4
Minor Allele Frequency (MAF) 4.0E-6
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
530
-
Heterozygous 57 Not Reported Saunders et al 2009