| Mutation type:Point | Mutation effect:Missense | Nucleotide number:164 | |||
| Genome location:Exon3 | Subdomain:Gla | ||||
| Alpha missense prediction value:0.2066 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 9 | |||||
| Patient information: Monoallelic variation (9); 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 | 54 | NA | NA | I | Other VTE (38) | 38 | UK | thrombosis (Other VTE) | PMID: 8972002 |
| 2 | NA | NA | hetero | NA | NA | NA | I | PE | NA | UK | NA | PMID: 8972002 |
| 3 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | UK | NA | PMID: 8972002 |
| 4 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | UK | NA | PMID: 8972002 |
| 5 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | UK | NA | PMID: 8972002 |
| 6 | M | NA | hetero | 45 | 45 | 63 | I | Other VTE | NA | Argentina | anticoagulation therapy | PMID: 30632992 |
| 7 | F | NA | hetero | 75 | 83 | 91 | I | asymptomatic | NA | Argentina | NA | PMID: 30632992 |
| 8 | M | NA | hetero | 114 | 124 | 129 | I | asymptomatic | NA | Argentina | NA | PMID: 30632992 |
| 9 | F | NA | hetero | 70 | 66 | 75 | I | asymptomatic | NA | Argentina | NA | PMID: 30632992 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:164; 199 | |||
| Genome location:Exon3; Exon3 | Subdomain:Gla; Gla | ||||
| Alpha missense prediction value:0.2066; 0.3901 | Alpha missense prediction class:benign; ambiguous | ||||
| 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 | F | 24 | c.hetero | 49 | 43 | 60 | I | lymphedema (13); superficial venous thrombophlebitis (18, recurrent); hypodysfibrinogenemia (18-20); DVT (22) | 13 | Argentina | heterozygous p.Ala82Gly in the FGG gene (Fibrinogen Dunedin). LMWH, thrombectomy was performed | PMID: 30632992 |