| Mutation type:Deletion | Mutation effect:Inframe | Nucleotide number:356 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| 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 | NA | NA | hetero | NA | NA | 37 | I | NA | NA | USA | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:373 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.6116 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 5 | |||||
| Patient information: Monoallelic variation (5); 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 | NA | hetero | NA | 63 | NA | NA | Other VTE | NA | Brazil | thrombosis (Other VTE) | PMID: 10942953 |
| 2 | F | NA | hetero | NA | 54 | NA | NA | asymptomatic | NA | Brazil | NA | PMID: 10942953 |
| 3 | M | NA | hetero | NA | 70 | NA | NA | asymptomatic | NA | Brazil | NA | PMID: 10942953 |
| 4 | F | NA | hetero | NA | 45 | NA | NA | asymptomatic | NA | Brazil | NA | PMID: 10942953 |
| 5 | M | NA | hetero | NA | 48 | NA | NA | asymptomatic | NA | Brazil | NA | PMID: 10942953 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:373 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.2231 | Alpha missense prediction class:benign | ||||
| 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 | NA | NA | hetero | 65 | 60 | 64 | I | asymptomatic | NA | Japan | NA | PMID: 8883262 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:373 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.1248 | Alpha missense prediction class:benign | ||||
| 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 | NA | hetero | 72 | NA | 78 | NA | Other VTE (48) | 48 | Denmark | NA | PMID: 31821907 |