Search Results: 2 genotypes retrieved

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c.94C>T

p.Arg32Cys
Mutation type:Point Mutation effect:Missense Nucleotide number:94
Genome location:Exon3 Subdomain:Propeptide
Alpha missense prediction value:0.1636 Alpha missense prediction class:benign
No. of patients reported: 21
Patient information: Monoallelic variation (21); 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 40 55 I Other VTE (24) 24 Italy thrombosis (Other VTE); anticoagulant therapy PMID: 8829639
2 M NA hetero NA 50 60 I Other VTE (42) 42 Italy thrombosis (Other VTE); anticoagulant therapy PMID: 8829639
3 M NA hetero NA NA 65 I asymptomatic NA Italy NA PMID: 8829639
4 F NA hetero NA NA 60 I asymptomatic NA Italy NA PMID: 8829639
5 F NA hetero NA 49 50 I NA NA Italy NA PMID: 8829639
6 NA NA hetero 52.6 52 50.2 I Other VTE NA France NA PMID: 32717757
7 NA NA hetero 52.6 52 50.2 I Other VTE NA France NA PMID: 32717757
8 NA NA hetero 52.6 52 50.2 I asymptomatic NA France NA PMID: 32717757
9 NA NA hetero 52.6 52 50.2 I asymptomatic NA France NA PMID: 32717757
10 NA NA hetero 52.6 52 50.2 I asymptomatic NA France NA PMID: 32717757
11 F 86 hetero NA 42 33 I miscarriage (38), DVT (45) 38 Italy NA PMID: 22168450
12 F 65 hetero NA 18 21 I DVT (50, 61) 50 Italy FVL PMID: 22168450
13 M 63 hetero NA 53 45 I DVT, TIA (53, 61) 53 Italy FVL PMID: 22168450
14 F 59 hetero NA 59 64 I MI (54); TIA (57) 54 Italy NA PMID: 22168450
15 F 54 hetero NA 60 59 I DVT (27, 53) 27 Italy FVL PMID: 22168450
16 F 22 hetero NA 57 45 I DVT (21) 21 Italy FVL. oral estrogen therapy PMID: 22168450
17 F 34 hetero NA 51 38 I asymptomatic 34 Italy NA PMID: 22168450
18 F 33 hetero NA 46 38 I asymptomatic 33 Italy NA PMID: 22168450
19 M 40 hetero NA 56 45 I asymptomatic 40 Italy NA PMID: 22168450
20 M 18 hetero NA 25 45 I asymptomatic 18 Italy NA PMID: 22168450
21 F 12 hetero NA 55 43 I asymptomatic 12 Italy NA PMID: 22168450

c.[94C>T]; [94C>T]

p.[Arg32Cys]; [Arg32Cys]
Mutation type:Point; Point Mutation effect:Missense; Missense Nucleotide number:94; 94
Genome location:Exon3; Exon3 Subdomain:Propeptide; Propeptide
Alpha missense prediction value:0.1636; 0.1636 Alpha missense prediction class:benign; benign
No. of patients reported: 3
Patient information: Monoallelic variation (0); Biallelic variation (3)
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 homo NA 12 16 I Other VTE (1M) 1M Italy thrombosis (Other VTE) PMID: 8829639
2 M 61 homo NA 5 5.35 I DVT and PE (12, 15) 12 Italy the father died of stroke (46). FVL PMID: 22168450
3 M 51 homo NA 9 5.35 I DVT (14, 16) 14 Italy FVL PMID: 22168450