Search Results: 3 genotypes retrieved

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c.247T>C

p.Trp83Arg
Mutation type:Point Mutation effect:Missense Nucleotide number:247
Genome location:Exon4 Subdomain:Gla
Alpha missense prediction value:0.9123 Alpha missense prediction class:pathogenic
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 NA 40 hetero 75 63 76 IIb Other VTE 40 France NA PMID: 32717757

c.[246_247insCT]; [246_247insCT]

p.[Trp83SerfsX54]; [Trp83SerfsX54]
Mutation type:Insertion; Insertion Mutation effect:Frameshift; Frameshift Nucleotide number:246; 246
Genome location:Exon4; Exon4 Subdomain:Gla; Gla
Alpha missense prediction value:— Alpha missense prediction class:—
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 28 homo NA NA 3 I multiple DVT (28) 28 China anticoagulation therapy PMID: 22441373

c.[247T>C]; [565C>T]

p.[Trp83Arg]; [Arg189Trp]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:247; 565
Genome location:Exon4; Exon7 Subdomain:Gla; Linker
Alpha missense prediction value:0.9123; 0.0952 Alpha missense prediction class:pathogenic; 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 54 c.hetero NA NA PC defect NA Other VTE (34); DVT (50) 34 China thrombosis (Other VTE) PMID: 37789321