Search Results: 5 genotypes retrieved

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c.202G>A

p.Glu68Lys
Mutation type:Point Mutation effect:Missense Nucleotide number:202
Genome location:Exon3 Subdomain:Gla
Alpha missense prediction value:0.5914 Alpha missense prediction class:pathogenic
No. of patients reported: 3
Patient information: Monoallelic variation (3); 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 81 45 117 II asymptomatic NA Japan NA PMID: 7482420; PMID: 8115990
2 M NA hetero 62 35 70 II asymptomatic NA Japan NA PMID: 7482420; PMID: 8115990
3 M NA hetero 84 52 97 II asymptomatic NA Japan NA PMID: 7482420; PMID: 8115990

c.203A>C

p.Glu68Ala
Mutation type:Point Mutation effect:Missense Nucleotide number:203
Genome location:Exon3 Subdomain:Gla
Alpha missense prediction value:0.6932 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 NA NA hetero 74 43.5 67 IIb Other VTE NA France NA PMID: 32717757
2 NA NA hetero 74 43.5 67 IIb Other VTE NA France NA PMID: 32717757

c.[142G>A]; [202G>A]

p.[Glu48Lys]; [Glu68Lys]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:142; 202
Genome location:Exon3; Exon3 Subdomain:Gla; Gla
Alpha missense prediction value:0.6171; 0.5914 Alpha missense prediction class:pathogenic; 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 M NA c.hetero NA <5 NA NA BD, PF 0-1y Japan ICTH (BD) PMID: 28111891

c.[202G>A]; [1015G>A]

p.[Glu68Lys]; [Val339Met]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:202; 1015
Genome location:Exon3; Exon9 Subdomain:Gla; Serine protease
Alpha missense prediction value:0.5914; 0.8511 Alpha missense prediction class:pathogenic; 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 NA c.hetero NA 17 NA I BD, PF (4D) 4D Japan ICTH (BD) PMID: 28111891

c.[202G>A]; [1268delG]

p.[Glu68Lys]; [Gly423ValfsX82]
Mutation type:Point; Deletion Mutation effect:Missense; Frameshift Nucleotide number:202; 1268
Genome location:Exon3; Exon9 Subdomain:Gla; Serine protease
Alpha missense prediction value:0.5914 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 M 0Y c.hetero 12.5 NA 20 I PF, BD, DIC 0Y Japan intracranial bleeding (BD); anticoagulation therapy PMID: 7482420; PMID: 8115990