Search Results: 3 genotypes retrieved

Data download

c.820G>A

p.Glu274Lys
Mutation type:Point Mutation effect:Missense Nucleotide number:820
Genome location:Exon9 Subdomain:Serine protease
Alpha missense prediction value:0.7449 Alpha missense prediction class:pathogenic
No. of patients reported: 4
Patient information: Monoallelic variation (4); 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 41.5 44.3 34 I Other VTE NA France NA PMID: 32717757
2 NA NA hetero 41.5 44.3 34 I Other VTE NA France NA PMID: 32717757
3 NA NA hetero 41.5 44.3 34 I asymptomatic NA France NA PMID: 32717757
4 NA NA hetero NA 34 39 I NA NA France NA PMID: 7482420

c.820G>T

p.Glu274*
Mutation type:Point Mutation effect:Nonsense Nucleotide number:820
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 30 NA 38 NA asymptomatic NA China NA PMID: 27517348

c.[820G>T]; [889G>C]

p.[Glu274*]; [Asp297His]
Mutation type:Point; Point Mutation effect:Nonsense; Missense Nucleotide number:820; 889
Genome location:Exon9; Exon9 Subdomain:Serine protease; Serine protease
Alpha missense prediction value:0.735 Alpha missense prediction class:pathogenic
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 26 c.hetero 8 NA 20 I spontaneous miscarriage and ectopic pregnancy (26), DVT (23) 23 China LMWH, anticoagulation therapy PMID: 27517348