Search Results: 2 genotypes retrieved

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c.[470G>A]; [1120A>G]

p.[(Trp157*)]; [(Ser374Gly)]
Mutation type:Point; Point Mutation effect:Nonsense; Missense Nucleotide number:470; 1120
Genome location:Exon6; Exon9 Subdomain:EGF2; Serine protease
Alpha missense prediction value:0.0839 Alpha missense prediction class: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 M NA c.hetero 51 NA 40 I Other VTE (35) 35 USA thrombosis (Other VTE) PMID: 8972002

c.470G>A

p.(Trp157*)
Mutation type:Point Mutation effect:Nonsense Nucleotide number:470
Genome location:Exon6 Subdomain:EGF2
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 F NA hetero 40 NA 38 I Other VTE NA USA thrombosis (Other VTE) PMID: 8972002