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.1120A>G

p.(Ser374Gly)
Mutation type:Point Mutation effect:Missense Nucleotide number:1120
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.0839 Alpha missense prediction class:benign
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 M NA hetero 73 NA 70 NA asymptomatic NA USA NA PMID: 8972002