| Mutation type:Point | Mutation effect:Readthrough mutation | Nucleotide number:1384 | |||
| Genome location:Exon9 | Subdomain:NA | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| No. of patients reported: 2 | |||||
| Patient information: Monoallelic variation (2); Biallelic variation (0) | |||||
| Patient | Sex | Age | Genotype | PC: amidolytic act (%) | PC: clotting act (%) | PC: Ag (%) | PCD type | Clinical presentation (age) | First onset age | Country | Comments | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | 33 | hetero | 67.5 | NA | NA | NA | Other VTE | 33 | Czech Republic; Slovak Republic | family history of thromboembolic states | PMID: 35626216 |
| 2 | NA | NA | hetero | 57 | NA | NA | NA | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 22627591 |