Search Results: 4 genotypes retrieved

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c.175T>C

p.Cys59Arg
Mutation type:Point Mutation effect:Missense Nucleotide number:175
Genome location:Exon3 Subdomain:Gla
Alpha missense prediction value:0.953 Alpha missense prediction class:pathogenic
No. of patients reported: 2
Patient information: Monoallelic variation (2); 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 M NA hetero 71 NA 99 II Other VTE (52) 52 Denmark NA PMID: 31821907
2 M NA hetero 60 NA 53 I Other VTE (59) 59 Denmark NA PMID: 31821907

c.176_177GC>AA

p.Cys59*
Mutation type:Point Mutation effect:Nonsense Nucleotide number:176
Genome location:Exon3 Subdomain:Gla
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 miscarriage (n=2) NA Korea NA PMID: 18376272

c.177C>A

p.Cys59*
Mutation type:Point Mutation effect:Nonsense Nucleotide number:177
Genome location:Exon3 Subdomain:Gla
Alpha missense prediction value:— Alpha missense prediction class:—
No. of patients reported: 2
Patient information: Monoallelic variation (2); 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 57 40 49.5 I Other VTE NA France NA PMID: 32717757
2 NA NA hetero 57 40 49.5 I asymptomatic NA France NA PMID: 32717757

c.[176_177GC>AA]; [631C>T]

p.[Cys59*]; [Arg211Trp]
Mutation type:Point; Point Mutation effect:Nonsense; Missense Nucleotide number:176; 631
Genome location:Exon3; Exon7 Subdomain:Gla; Activation peptide
Alpha missense prediction value:0.1636 Alpha missense prediction class:benign
No. of patients reported: 2
Patient information: Monoallelic variation (0); Biallelic variation (2)
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 c.hetero NA 8 NA NA OD 0-1Y Korea BRD (OD); FFP, heparin and tissue plasminogen activator infusion, protein C concentrate, Ceprotin treatment, anticoagulation therapy PMID: 18376272
2 F NA c.hetero NA <10 NA NA DIC (1D), BD, OD, renal dysgenesis with hypertension 1D Korea ICH (BD), BRD (OD); protein C concentrate, LMWH PMID: 18376272