Search Results: 2 genotypes retrieved

Data download

c.944T>C

p.Ile315Thr
Mutation type:Point Mutation effect:Missense Nucleotide number:944
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.3187 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 NA 57 hetero 61 NA 70 I Other VTE 57 France NA PMID: 32717757

c.945A>G

p.Ile315Met
Mutation type:Point Mutation effect:Missense Nucleotide number:945
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.2257 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 NA 26 hetero 45 39 37 I asymptomatic 26 France NA PMID: 32717757