| Mutation type:Point | Mutation effect:Missense | Nucleotide number:303 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.7612 | Alpha missense prediction class:pathogenic | ||||
| 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 | M | NA | hetero | NA | NA | NA | NA | NA | NA | China | NA | PMID: 37789321 |
| Mutation type:Point; Deletion | Mutation effect:Missense; Inframe | Nucleotide number:303; 574 | |||
| Genome location:Exon5; Exon7 | Subdomain:EGF1; Linker | ||||
| Alpha missense prediction value:0.7612 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 1 | |||||
| Patient information: Monoallelic variation (0); Biallelic variation (1) | |||||
| 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 | 17 | c.hetero | 52 | NA | PC defect | NA | DVT (14) | 14 | China | NA | PMID: 37789321 |