|
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) 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 | 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 | 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 | Heterozygous | <1 | Mild | Kim et al 2012 | ||
| 797 | Case 797 | 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 | Heterozygous | 3 | Asymptomatic | Shao et al 2016 | |||
| 848 | Prolonged bleeding post dental extraction | Heterozygous | 3 | Mild | Shao et al 2016 | ||
| 849 | Bleeding postpartum and after surgery | Heterozygous | 4 | Mild | Shao et al 2016 | ||
| 850 | Heterozygous | 5 | Asymptomatic | Shao et al 2016 | |||
| 866 | Heterozygous | 7 | Asymptomatic | Shao et al 2016 | |||
| 868 | Easy bruising and epistaxis | Heterozygous | <1 | Mild | Shao et al 2016 | ||
| 869 | Haematuria after renan calculus operation | 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 | 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 | 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 | Heterozygous | <1 | Mild | Zhang et al 2020 | ||
| 1159 | Bruising | Homozygous | 6 | Mild | Zhang et al 2020 |