Search Results: 3 genotypes retrieved

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c.76G>A

p.(Val26Met)
Mutation type:Point Mutation effect:Missense Nucleotide number:76
Genome location:Exon3 Subdomain:Propeptide
Alpha missense prediction value:0.3205 Alpha missense prediction class:benign
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 62 60 60 I edema NA Japan NA PMID: 9840027
2 F NA hetero NA NA NA I NA NA China NA PMID: 37789321

c.[76G>A]; [479G>A]

p.[(Val26Met)]; [(Cys160Tyr)]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:76; 479
Genome location:Exon3; Exon6 Subdomain:Propeptide; EGF2
Alpha missense prediction value:0.3205 Alpha missense prediction class:benign; 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 NA NA c.hetero NA NA NA I Other VTE NA USA thrombosis (Other VTE) PMID: 7482420

c.[76G>A]; [565C>T]

p.[(Val26Met)]; [(Arg189Trp)]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:76; 565
Genome location:Exon3; Exon7 Subdomain:Propeptide; Linker
Alpha missense prediction value:0.3205 Alpha missense prediction class:benign; benign
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 48 c.hetero NA NA PC defect I DVT, PE (48) 48 China NA PMID: 37789321