Search Results: 2 genotypes retrieved

Data download

c.1082_1087delACTTCA

p.Asn361_Phe362del
Mutation type:Deletion Mutation effect:Inframe Nucleotide number:1082
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 67 hetero NA 50 54 I Other VTE 67 France NA PMID: 32717757

c.[565C>T]; [1081A>G]

p.[Arg189Trp]; [Asn361Asp]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:565; 1081
Genome location:Exon7; Exon9 Subdomain:Linker; Serine protease
Alpha missense prediction value:0.0952; 0.2464 Alpha missense prediction class:benign; 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 F 34 c.hetero 58 NA PC defect NA Other VTE (31) 31 China PVT (Other VTE); Oral contraceptives PMID: 37789321