| Mutation type:Point | Mutation effect:Missense | Nucleotide number:172 | |||
| Genome location:Exon3 | Subdomain:Gla | ||||
| Alpha missense prediction value:0.6325 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 20 | |||||
| Patient information: Monoallelic variation (20); 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 | 92 | 60.6 | 97.8 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 92 | 60.6 | 97.8 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 92 | 60.6 | 97.8 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 92 | 60.6 | 97.8 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 92 | 60.6 | 97.8 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | NA | 45 | 63 | II | Other VTE | NA | Spain | thrombosis (Other VTE); anticoagulation therapy | PMID: 31254973 |
| 7 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 31254973 |
| 8 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 31254973 |
| 9 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 31254973 |
| 10 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 31254973 |
| 11 | NA | NA | hetero | 51 | NA | 96 | II | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 12 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 31254973 |
| 13 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 31254973 |
| 14 | NA | NA | hetero | NA | 58 | 75 | II | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 15 | NA | NA | hetero | NA | 40 | 92 | II | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 16 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 31254973 |
| 17 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 31254973 |
| 18 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 31254973 |
| 19 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 31254973 |
| 20 | NA | NA | hetero | NA | 38 | 97 | II | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |