Search Results: 3 genotypes retrieved

Data download

c.1361_1366insC

p.Gln456ProfsX53
Mutation type:Insertion Mutation effect:Frameshift Nucleotide number:1361
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 NA hetero 45 NA NA NA Other VTE NA Germany thrombosis (Other VTE) PMID: 22627591

c.1367delA

p.Gln456ArgfsX49
Mutation type:Deletion Mutation effect:Frameshift Nucleotide number:1367
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 F NA hetero NA NA NA NA NA NA China NA PMID: 37789321

c.[574_576delAAG]; [1367delA]

p.[Lys192del]; [Gln456ArgfsX49]
Mutation type:Deletion; Deletion Mutation effect:Inframe; Frameshift Nucleotide number:574; 1367
Genome location:Exon7; Exon9 Subdomain:Linker; Serine protease
Alpha missense prediction value:— Alpha missense prediction class:—
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 46 c.hetero 40 NA PC defect NA MI (43); Other VTE (45) 43 China PVT (Other VTE) PMID: 37789321