Search Results: 2 genotypes retrieved

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c.211G>A

p.Glu71Lys
Mutation type:Point Mutation effect:Missense Nucleotide number:211
Genome location:Exon3 Subdomain:Gla
Alpha missense prediction value:0.6691 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 NA NA NA II DVT, Other VTE NA China PVT (Other VTE) PMID: 22951146
2 M NA hetero 56 NA 85 II Other VTE NA China PVT (Other VTE); Anticoagulation, thrombolysis and other treatments PMID: 22366017

c.[211G>A]; [565C>T]

p.[Glu71Lys]; [Arg189Trp]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:211; 565
Genome location:Exon3; Exon7 Subdomain:Gla; Linker
Alpha missense prediction value:0.6691; 0.0952 Alpha missense prediction class:pathogenic; 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 M 20 c.hetero 19 NA 42 NA PE (19) 19 China NA PMID: 22951146
2 M 19 c.hetero 19 NA 42 II PE 19 China LMWH, thrombolysis, anticoagulation therapy PMID: 22366017