Factor XI Variant Database
Variant ID:
176
Type Point
Effect Missense
cDNA Change c.783G>C
LRG Change LRG_583:g.19076G>C
Genomic Change 19076G>C
Genomic HGVS Change NG_008051.1:g.19076G>C
Amino Acid Change p.(Glu261Asp) (Legacy AA No. 243)
Domain Apple 3
Codon Change GAG GAC
Location Exon 8
Minor Allele Frequency (MAF) 5.97E-5
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
302
1
Heterozygous 35 Asymptomatic Quelin et al 2005
303 Easy bruising
-
Heterozygous 35 28 Mild Quelin et al 2005