| Mutation type:Insertion | Mutation effect:Frameshift | Nucleotide number:606 | |||
| Genome location:Exon7 | Subdomain:Activation peptide | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| No. of patients reported: 3 | |||||
| Patient information: Monoallelic variation (3); 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 | 56 | 55.3 | 43.3 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 56 | 55.3 | 43.3 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 56 | 55.3 | 43.3 | I | asymptomatic | NA | France | NA | PMID: 32717757 |