Factor XI Variant Database
Variant ID:
186
Type Point
Effect Nonsense
cDNA Change c.841C>T
LRG Change LRG_583:g.19134C>T
Genomic Change 19134C>T
Genomic HGVS Change NG_008051.1:g.19134C>T
Amino Acid Change p.(Gln281*) (Legacy AA No. 263)
Domain Apple 3
Codon Change CAA TAA
Location Exon 8
Minor Allele Frequency (MAF) 8.13E-5
Pathogenicity (ACMG)Definition Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic TBA
Comments on Variant

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
147 Daughter of case 144
-
Heterozygous 45 Asymptomatic Au et al 2003
145 Daughter of case 144
-
Heterozygous 49 Asymptomatic Au et al 2003
144 Case 144: prolonged bleeding after tooth extraction: no previous history of menorrhagia or bleeding after four deliveries
1
Heterozygous 1 Asymptomatic Au et al 2003
104 Consanguineous parents: brother of case 100
-
Homozygous <1 Asymptomatic Sato et al 2000
105 Son of case 100
-
Heterozygous 40 Asymptomatic Sato et al 2000
103 Consanguineous parents: sister of case 100
-
Heterozygous 61 Asymptomatic Sato et al 2000
101 Father of case 100
-
Heterozygous 40 Asymptomatic Sato et al 2000
102 Mother of case 100
-
Heterozygous 55 Asymptomatic Sato et al 2000
100 Case 100: consanguineous parents
-
Homozygous <1 <1 Asymptomatic Sato et al 2000
99 Brother of case 97: unknown paternal variant allele postulated: consanguineous parents
-
Heterozygous <1 <1 Not Reported Kawaguchi et al 2000
98 Mother of cases 97 and 99
-
Heterozygous half half Not Reported Kawaguchi et al 2000
97 Case 97: unknown paternal variant allele postulated: consanguineous parents
-
Heterozygous <1 <1 Not Reported Kawaguchi et al 2000
569 Case 569
1
Heterozygous 3 3 Asymptomatic Wang et al 2009
571 Father of case 569
-
Heterozygous 83 53 Asymptomatic Wang et al 2009
647 Bleeding during urologic procedure
-
Homozygous 4 Mild Kim et al 2012
648 History of post-operative bleeding
-
Homozygous 2 Mild Kim et al 2012
649
-
Homozygous 5 Asymptomatic Kim et al 2012
659 Bleeding during plastic surgery
1
Heterozygous <1 Mild Kim et al 2012
797 Case 797
1
Heterozygous 1 <1 Asymptomatic Liu et al 2015
799 Father of case 797
-
Heterozygous 59 Not Reported Liu et al 2015
826
-
Homozygous 2 Asymptomatic Shao et al 2016
836
-
Homozygous 2 Asymptomatic Shao et al 2016
838
-
Homozygous 1 Asymptomatic Shao et al 2016
844
1
Heterozygous 3 Asymptomatic Shao et al 2016
848 Prolonged bleeding post dental extraction
1
Heterozygous 3 Mild Shao et al 2016
849 Bleeding postpartum and after surgery
1
Heterozygous 4 Mild Shao et al 2016
850
1
Heterozygous 5 Asymptomatic Shao et al 2016
866
1
Heterozygous 7 Asymptomatic Shao et al 2016
868 Easy bruising and epistaxis
1
Heterozygous <1 Mild Shao et al 2016
869 Haematuria after renan calculus operation
1
Heterozygous 2 Mild Shao et al 2016
871 Possible undetected second heterozygous variant
-
Heterozygous 3 Asymptomatic Shao et al 2016
1120 Three heterozygous family members genotyped but no phenotypic or clinical details provided
1
Heterozygous 2 <1 Asymptomatic Lin F et al 2020
1123 Peptic ulcer with bleeding: four heterozygous family members genotyped but no phenotypic or clinical details provided
-
Homozygous <1 <1 Mild Lin F et al 2020
1133 Case 1133: bleeding after dental extraction and post-operation
-
Homozygous 1 Mild Lin HY et al 2020
1134 Father of case 1133
-
Heterozygous 60 Not Reported Lin HY et al 2020
1135 Mother of case 1133
-
Heterozygous 56 Not Reported Lin HY et al 2020
1139 Easy bruising
1
Heterozygous 7 Mild Lin HY et al 2020
1140 Case 1140: bleeding after dental extraction
-
Homozygous <1 Mild Lin HY et al 2020
1141 Father of case 1140
-
Heterozygous 33 Not Reported Lin HY et al 2020
1142 Mother of case 1140
-
Heterozygous 52 Not Reported Lin HY et al 2020
1151 Bruising
1
Heterozygous <1 Mild Zhang et al 2020
1159 Bruising
-
Homozygous 6 Mild Zhang et al 2020