| Mutation type:Point | Mutation effect:Nonsense | Nucleotide number:470 | |||
| 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 | M | NA | hetero | 51 | NA | 40 | I | Other VTE (35) | 35 | USA | thrombosis (Other VTE) | PMID: 8972002 |
| 2 | F | NA | hetero | 40 | NA | 38 | I | Other VTE | NA | USA | thrombosis (Other VTE) | PMID: 8972002 |