Factor XI Variant Database
Variant ID:
154
Type Point
Effect Missense
cDNA Change c.688T>C
LRG Change LRG_583:g.15360T>C
Genomic Change 15360T>C
Genomic HGVS Change NG_008051.1:g.15360T>C
Amino Acid Change p.(Cys230Arg) (Legacy AA No. 212)
Domain Apple 3
Codon Change TGC CGC
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
349 No clinical description in publication
-
Homozygous 1 Not Reported Mitchell et al 2006
180 Conference abstract
-
Homozygous Not Reported Morishita et al 2003
154 Conference abstract
-
Homozygous Not Reported Bolton-Maggs et al 2003
652
-
Heterozygous 48 Asymptomatic Kim et al 2012
974 Case 974
-
Heterozygous 34 Asymptomatic Tiscia et al 2017
975 Mother of case 974
-
Heterozygous 34 Asymptomatic Tiscia et al 2017