Factor XI Variant Database
Variant ID:
106
Type Point
Effect Missense
cDNA Change c.434A>G
LRG Change LRG_583:g.13261A>G
Genomic Change 13261A>G
Genomic HGVS Change NG_008051.1:g.13261A>G
Amino Acid Change p.(His145Arg) (Legacy AA No. 127)
Domain Apple 2
Codon Change CAC CGC
Location Exon 5
Minor Allele Frequency (MAF) 0.000138
Pathogenicity (ACMG)Definition Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic TBA
Comments on Variant Suggested CRM +ve phenotype

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
681 Case 681: also positive for lupus anticoagulant
-
Heterozygous 27 125 Asymptomatic Castaman et al 2013
682 Son of case 681
-
Heterozygous 52 118 Asymptomatic Castaman et al 2013
683 Son of case 681
-
Heterozygous 56 157 Asymptomatic Castaman et al 2013
1139 Easy bruising
1
Heterozygous 7 Mild Lin HY et al 2020
1144 Paternal grandfather of case 1145
1
Heterozygous 18 Asymptomatic Peng et al 2020
1145 Case 1145: also heterozygous for a FGG variant
-
Heterozygous 70 Asymptomatic Peng et al 2020
1146 Father of case 1145: also heterozygous for a FGG variant
-
Heterozygous 68 Asymptomatic Peng et al 2020
1147 Paternal aunt of case 1145: also heterozygous for a FGG variant
-
Heterozygous 72 Asymptomatic Peng et al 2020