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Variant ID: 298 |
Type | Point |
|---|---|---|
| Effect | Missense | cDNA Change | c.1289C>T | LRG Change | LRG_583:g.23282C>T | Genomic Change | 23282C>T | Genomic HGVS Change | NG_008051.1:g.23282C>T |
| Amino Acid Change | p.(Ala430Val) (Legacy AA No. 412) | |
| Domain | Serine Protease | |
| Codon Change | GCT GTT | |
| Location | Exon 11 | |
| Minor Allele Frequency (MAF) | ||
Pathogenicity (ACMG) Variant is: 1=Benign, 2=Likely Benign, 3=Unknown Significance (VUS), 4=Likely Pathogenic, 5=Pathogenic |
TBA | |
| Comments on Variant | Ala430 adjacent to active site triad His431 |
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 |
|---|---|---|---|---|---|---|---|
| 271 | Case 271 | Heterozygous | <1 | 1 | Asymptomatic | Hill et al 2005 | |
| 272 | Parent of case 271 | Heterozygous | 68 | Asymptomatic | Hill et al 2005 | ||
| 94 | Menorrhagia: facial bruising and epistaxis after dental treatment | Heterozygous | 48 | 39 | Mild | Mitchell et al 1999 |