Factor XI Variant Database
Variant ID:
214
Type Point
Effect Missense
cDNA Change c.992C>T
LRG Change LRG_583:g.19386C>T
Genomic Change 19386C>T
Genomic HGVS Change NG_008051.1:g.19386C>T
Amino Acid Change p.(Thr331Ile) (Legacy AA No. 313)
Domain Apple 4
Codon Change ACC ATC
Location Exon 9
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
483 Consanguineous parents: moderate haemorrhage after oral surgery
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Homozygous <1 Moderate Fard-Esfahani et al 2008