| Mutation type:Deletion | Mutation effect:Frameshift | Nucleotide number:964 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| 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 | NA | NA | hetero | 42 | 50 | NA | NA | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 2 | NA | NA | hetero | NA | NA | NA | NA | NA | NA | Spain | NA | PMID: 31254973 |
| Mutation type:Deletion; Point | Mutation effect:Inframe; Missense | Nucleotide number:703; 965 | |||
| Genome location:Exon8; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.1976 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 1 | |||||
| Patient information: Monoallelic variation (0); Biallelic variation (1) | |||||
| 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 | c.hetero | 22 | NA | NA | NA | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 22627591 |