| Mutation type:Deletion | Mutation effect:Frameshift | Nucleotide number:143 | |||
| Genome location:Exon3 | Subdomain:Gla | ||||
| 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 | NA | NA | hetero | 41 | NA | 36 | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 2 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:142; 202 | |||
| Genome location:Exon3; Exon3 | Subdomain:Gla; Gla | ||||
| Alpha missense prediction value:0.6171; 0.5914 | Alpha missense prediction class:pathogenic; 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 | NA | c.hetero | NA | <5 | NA | NA | BD, PF | 0-1y | Japan | ICTH (BD) | PMID: 28111891 |