Search Results: 5 genotypes retrieved

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c.316T>C

p.Cys106Arg
Mutation type:Point Mutation effect:Missense Nucleotide number:316
Genome location:Exon5 Subdomain:EGF1
Alpha missense prediction value:0.8642 Alpha missense prediction class:pathogenic
No. of patients reported: 7
Patient information: Monoallelic variation (7); 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 22 hetero 47 39 53 I DVT (20) 20 Poland Dabigatran PMID: 35627118
2 F 48 hetero 46 34 35 I DVT (45); PE 45 Poland Apixaban PMID: 35627118
3 M 29 hetero 42 NA 44 I DVT, PE (29), recurrence Other VTE 29 Poland NA PMID: 28607330
4 M 37 hetero 51 NA 65.5 I DVT, PE (37) 37 Poland NA PMID: 28607330
5 F 22 hetero 42.4 NA NA I DVT (20), Other VTE 20 Poland NA PMID: 28607330
6 M 26 hetero 48 NA 44.9 I asymptomatic 26 Poland family history of VTE PMID: 28607330
7 M 29 hetero 42 NA 44 I DVT, PE with hypotonia (29) 29 Poland anticoagulation therapy, tenecteplase, enoxaparin. PMID: 24496376

c.316T>G

p.Cys106Gly
Mutation type:Point Mutation effect:Missense Nucleotide number:316
Genome location:Exon5 Subdomain:EGF1
Alpha missense prediction value:0.6965 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 NA 46 hetero 44.1 NA 53.3 I DVT 46 China NA PMID: 22545135

c.316_318TGC>GGA

p.Cys106Gly
Mutation type:Point Mutation effect:Missense Nucleotide number:316
Genome location:Exon5 Subdomain:EGF1
Alpha missense prediction value:0.6965 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 NA NA hetero 40; 46 NA 40 I personal or family history of Other VTE NA Finland thrombosis (Other VTE) PMID: 16360797

c.318C>G

p.Cys106Trp
Mutation type:Point Mutation effect:Missense Nucleotide number:318
Genome location:Exon5 Subdomain:EGF1
Alpha missense prediction value:0.9044 Alpha missense prediction class:pathogenic
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 M NA hetero NA NA 50 I asymptomatic NA China NA PMID: 16689777
2 F 32 hetero NA NA NA I Other VTE, DVT, died of Other VTE 32 China MVT (Other VTE); disseminated thrombosis (Other VTE) PMID: 16689777

c.[318C>G]; [541T>G]

p.[Cys106Trp]; [Phe181Val]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:318; 541
Genome location:Exon5; Exon7 Subdomain:EGF1; Linker
Alpha missense prediction value:0.9044; 0.4146 Alpha missense prediction class:pathogenic; 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 32 c.hetero 1.2 NA 1 I DVT (24, 30), Other VTE (30) 24 China thrombosis (Other VTE) PMID: 16689777