Search Results: 4 genotypes retrieved

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c.1066delC

p.Arg356AlafsX22
Mutation type:Deletion Mutation effect:Frameshift Nucleotide number:1066
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:— Alpha missense prediction class:—
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 36 hetero 40 33 49 I asymptomatic 36 France NA PMID: 32717757

c.1066C>T

p.Arg356Cys
Mutation type:Point Mutation effect:Missense Nucleotide number:1066
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.4052 Alpha missense prediction class:ambiguous
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 33 hetero NA NA NA I Other VTE 33 France NA PMID: 32717757
2 NA NA hetero NA 50 100 II NA NA Germany NA PMID: 7482420

c.1067G>T

p.Arg356Leu
Mutation type:Point Mutation effect:Missense Nucleotide number:1067
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.3182 Alpha missense prediction class:benign
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 F 27 hetero 83 44 77 IIb asymptomatic 27 Germany Grandfather with PE and DVT. FVL, gestation. PMID: 32309994
2 M 80 hetero 80 49 68 IIb DVT (42, recurrent) 42 Germany Father with PE. FVL PMID: 32309994

c.[151C>T]; [352T>C; 1067G>A]

p.[Arg51Cys]; [Phe118Leu; Arg356His]
Mutation type:Point; Point; Point Mutation effect:Missense; Missense; Missense Nucleotide number:151; 352; 1067
Genome location:Exon3; Exon5; Exon9 Subdomain:Gla; EGF1; Serine protease
Alpha missense prediction value:0.2413; 0.9473; 0.1234 Alpha missense prediction class:benign; pathogenic; benign
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