Factor XI Variant Database
Variant ID:
297
Type Point
Effect Missense
cDNA Change c.1288G>T
LRG Change LRG_583:g.23281G>T
Genomic Change 23281G>T
Genomic HGVS Change NG_008051.1:g.23281G>T
Amino Acid Change p.(Ala430Ser) (Legacy AA No. 412)
Domain Serine Protease
Codon Change GCT TCT
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
554
-
Heterozygous 35 35 Not Reported Saunders et al 2009