| Mutation type:Point | Mutation effect:Missense | Nucleotide number:379 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.4524 | Alpha missense prediction class:ambiguous | ||||
| 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 | NA | 55 | 126 | II | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 2 | F | NA | hetero | NA | 47 | 101 | II | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 3 | NA | NA | hetero | NA | 56 | 93 | II | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |