Factor XI Variant Database
Variant ID:
60
Type Point
Effect Missense
cDNA Change c.209C>T
LRG Change LRG_583:g.10799C>T
Genomic Change 10799C>T
Genomic HGVS Change NG_008051.1:g.10799C>T
Amino Acid Change p.(Pro70Leu) (Legacy AA No. 52)
Domain Apple 1
Codon Change CCC CTC
Location Exon 3
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Comments on Variant Unpublished data taken from now-unavailable online version of "Coagulation factor XI: a database of mutations and polymorphism associated with factor XI deficiency"

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
1190 Unpublished case
-
Not Reported Dossenbach-Glaninger et al 2005