| Mutation type:Point | Mutation effect:Missense | Nucleotide number:545 | |||
| Genome location:Exon7 | Subdomain:Linker | ||||
| Alpha missense prediction value:0.6384 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 1 | |||||
| Patient information: Monoallelic variation (1); 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 | NA | 41 | hetero | 50 | 54 | 42 | I | Other VTE | 41 | France | NA | PMID: 32717757 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:545 | |||
| Genome location:Exon7 | Subdomain:Linker | ||||
| Alpha missense prediction value:0.4905 | Alpha missense prediction class:ambiguous | ||||
| No. of patients reported: 1 | |||||
| Patient information: Monoallelic variation (1); 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 | NA | NA | hetero | 48 | NA | NA | NA | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 22627591 |