Factor XI Variant Database
Variant ID:
153
Type Point
Effect Missense
cDNA Change c.688T>A
LRG Change LRG_583:g.15360T>A
Genomic Change 15360T>A
Genomic HGVS Change NG_008051.1:g.15360T>A
Amino Acid Change p.(Cys230Ser) (Legacy AA No. 212)
Domain Apple 3
Codon Change TGC AGC
Location Exon 7
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 Abolition of Apple 3 disulphide link Cys230-Cys236

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
513 Sister of case 514: postoperative bleeding
1
Heterozygous <1 Mild Quelin et al 2009
514 Case 514: spontaneous bruising and gingival bleeding: postoperative bleeding
1
Heterozygous <1 Mild Quelin et al 2009
515 Daughter of case 514
-
Heterozygous 38 Not Reported Quelin et al 2009
516 Niece of case 514: easy bruising
-
Heterozygous 35 Mild Quelin et al 2009