| Mutation type:Deletion | Mutation effect:Inframe | Nucleotide number:458 | |||
| Genome location:Exon6 | Subdomain:EGF2 | ||||
| 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 | 47 | hetero | NA | 59 | 60 | I | Other VTE | 47 | Japan | CVT (Other VTE) | PMID: 22290026 |
| 2 | F | NA | hetero | NA | 56 | NA | I | hypercoagulability during pregnancy | NA | Japan | heparin | PMID: 22290026 |