| Mutation type:Deletion | Mutation effect:Inframe | Nucleotide number:535 | |||
| Genome location:Intron6_Exon8 | Subdomain:Linker; Activation peptide; Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | F | 36 | hetero | 38 | NA | 35 | I | DVT during pregnancy (35), miscarriage. | 35 | Japan | miscarriage (abortion surgery). heparin, thrombin inhibitor (argatroban) and activated factor X inhibitor (apixaban). | PMID: 32199175 |