Factor XI Variant Database
Variant ID:
129
Type Point
Effect Missense
cDNA Change c.539A>G
LRG Change LRG_583:g.14877A>G
Genomic Change 14877A>G
Genomic HGVS Change NG_008051.1:g.14877A>G
Amino Acid Change p.(Lys180Arg) (Legacy AA No. 162)
Domain Apple 2
Codon Change AAG AGG
Location Exon 6
Minor Allele Frequency (MAF) 0.0010597
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
1212 ClinVAR entry
-
Not Reported ClinVAR entry