|
Variant ID: 296 |
Type | Point |
|---|---|---|
| Effect | Missense | cDNA Change | c.1288G>A | LRG Change | LRG_583:g.23281G>A | Genomic Change | 23281G>A | Genomic HGVS Change | NG_008051.1:g.23281G>A |
| Amino Acid Change | p.(Ala430Thr) (Legacy AA No. 412) | |
| Domain | Serine Protease | |
| Codon Change | GCT ACT | |
| Location | Exon 11 | |
| Minor Allele Frequency (MAF) | 7.08E-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 |
|---|---|---|---|---|---|---|---|
| 449 | Case 449: spontaneous epistaxis and menorrhagia: postpartum and post-surgical bleeding | Heterozygous | 2 | 2 | Moderate | Castaman et al 2008B | |
| 451 | Mother of case 449 | Heterozygous | 46 | 53 | Asymptomatic | Castaman et al 2008B | |
| 453 | Son of case 449: epistaxis and easy bruising | Heterozygous | 37 | 37 | Mild | Castaman et al 2008B | |
| 465 | Menorrhagia; gingival bleeding and easy bruising: excessive bleeding following dental extractions | Heterozygous | 7 | 7 | Mild | De Raucourt et al 2008 | |
| 468 | Previous unspecified bleeding history | Homozygous | <2 | Not Reported | Duncan et al 2008 | ||
| 794 | Case 794 | Heterozygous | 2 | 5 | Asymptomatic | Liu et al 2015 | |
| 796 | Mother of Case 794 | Heterozygous | 49 | Not Reported | Liu et al 2015 | ||
| 865 | Heterozygous | 2 | Asymptomatic | Shao et al 2016 |