Search Results: 5 genotypes retrieved

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c.398G>C

p.Arg133Pro
Mutation type:Point Mutation effect:Missense Nucleotide number:398
Genome location:Exon5 Subdomain:EGF1
Alpha missense prediction value:0.3919 Alpha missense prediction class:ambiguous
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 NA NA hetero 47.3 49.9 45.1 I Other VTE NA France NA PMID: 32717757
2 NA NA hetero 47.3 49.9 45.1 I Other VTE NA France NA PMID: 32717757
3 NA NA hetero 47.3 49.9 45.1 I Other VTE NA France NA PMID: 32717757
4 NA NA hetero 47.3 49.9 45.1 I asymptomatic NA France NA PMID: 32717757
5 NA NA hetero 47.3 49.9 45.1 I asymptomatic NA France NA PMID: 32717757
6 NA NA hetero 47.3 49.9 45.1 I asymptomatic NA France NA PMID: 32717757
7 NA NA hetero 47.3 49.9 45.1 I asymptomatic NA France NA PMID: 32717757

c.399C>T

p.Arg133Arg
Mutation type:Point Mutation effect:Silent Nucleotide number:399
Genome location:Exon5 Subdomain:EGF1
Alpha missense prediction value:— Alpha missense prediction class:—
No. of patients reported: 4
Patient information: Monoallelic variation (4); 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 NA I Other VTE NA France thrombosis (Other VTE) PMID: 10669160
2 NA NA hetero NA NA NA I Other VTE NA France thrombosis (Other VTE) PMID: 10669160
3 NA NA hetero NA NA NA I Other VTE NA France thrombosis (Other VTE) PMID: 10669160
4 NA NA hetero 64 NA NA I Other VTE NA Germany thrombosis (Other VTE) PMID: 22627591

c.[398G>C]; [398G>C]

p.[Arg133Pro]; [Arg133Pro]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:398; 398
Genome location:Exon5; Exon5 Subdomain:EGF1; EGF1
Alpha missense prediction value:0.3919; 0.3919 Alpha missense prediction class:ambiguous; 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 NA NA homo NA NA NA I Other VTE NA France thrombosis (Other VTE) PMID: 10669160

c.[-22+26_-22+27TG>CA]; [399C>T]

NA; p.Arg133Arg
Mutation type:Point; Point Mutation effect:Splice; Silent Nucleotide number:-22; 399
Genome location:Intron1; Exon5 Subdomain:NA; EGF1
Alpha missense prediction value:— Alpha missense prediction class:—
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 NA NA c.hetero NA NA NA I Other VTE NA France thrombosis (Other VTE) PMID: 10669160

c.[399C>T]; [462G>A]

p.[Arg133Arg]; [Glu154Glu]
Mutation type:Point; Point Mutation effect:Silent; Silent Nucleotide number:399; 462
Genome location:Exon5; Exon6 Subdomain:EGF1; EGF2
Alpha missense prediction value:— Alpha missense prediction class:—
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 NA NA c.hetero NA NA NA I Other VTE NA France thrombosis (Other VTE) PMID: 10669160