Factor XI Variant Database
Variant ID:
212
Type Deletion
Effect Frameshift
cDNA Change c.990delT
LRG Change LRG_583:g.19384del
Genomic Change 19384del
Genomic HGVS Change NG_008051.1:g.19384del
Amino Acid Change p.(Phe330Leufs*19) (Legacy AA No. 313)
Domain Apple 4
Codon Change
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 Deletion in "TTTTTT"

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
1236 Variant found in NGS screen
-
Not Reported Abuli et al 2016