Search Results: 2 genotypes retrieved

Data download

c.994C>T

p.Gln332*
Mutation type:Point Mutation effect:Nonsense Nucleotide number:994
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 77 hetero NA 41 51 I Other VTE 77 France NA PMID: 32717757

c.[392G>C]; [996G>C]

p.[Cys131Ser]; [Gln332His]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:392; 996
Genome location:Exon5; Exon9 Subdomain:EGF1; Serine protease
Alpha missense prediction value:0.9863; 0.1425 Alpha missense prediction class: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