Search Results: 5 genotypes retrieved

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c.339_353delCGGCATCGGCAGCTT

p.Gly114_Phe118del
Mutation type:Deletion Mutation effect:Inframe Nucleotide number:339
Genome location:Exon5 Subdomain:EGF1
Alpha missense prediction value:— Alpha missense prediction class:—
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 31 NA 41 I NA NA Austria NA PMID: 7482420
2 NA NA hetero NA NA NA I NA NA Austria NA PMID: 7482420

c.340_348dupGGCATCGGC

p.Gly114_Gly116dup
Mutation type:Duplication Mutation effect:Inframe Nucleotide number:340
Genome location:Exon5 Subdomain:EGF1
Alpha missense prediction value:— Alpha missense prediction class:—
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 NA NA hetero 40 NA 50 I Other VTE (31) 31 USA thrombosis (Other VTE) PMID: 8972002
2 NA NA hetero NA NA NA I asymptomatic NA USA NA PMID: 8972002
3 NA 57 hetero 50 48 44 I Other VTE 57 France NA PMID: 32717757

c.340G>C

p.Gly114Arg
Mutation type:Point Mutation effect:Missense Nucleotide number:340
Genome location:Exon5 Subdomain:EGF1
Alpha missense prediction value:0.1549 Alpha missense prediction class:benign
No. of patients reported: 5
Patient information: Monoallelic variation (5); 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 61 68 56.5 I Other VTE NA France NA PMID: 32717757
2 NA NA hetero 61 68 56.5 I Other VTE NA France NA PMID: 32717757
3 NA NA hetero 58 NA 52 I NA NA Netherlands NA PMID: 7482420
4 NA NA hetero NA NA NA I NA NA Netherlands NA PMID: 7482420
5 NA NA hetero NA NA NA I NA NA Netherlands NA PMID: 7482420

c.340G>T

p.Gly114Cys
Mutation type:Point Mutation effect:Missense Nucleotide number:340
Genome location:Exon5 Subdomain:EGF1
Alpha missense prediction value:0.4501 Alpha missense prediction class:ambiguous
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 58; 51 NA 50 I personal or family history of Other VTE NA Finland thrombosis (Other VTE) PMID: 16360797
2 NA NA hetero NA 39 50 I NA NA Germany NA PMID: 7482420

c.[340_346delGGCATCGinsATGCC]; [340_346delGGCATCGinsATGCC]

p.[Gly114MetfsX47]; [Gly114MetfsX47]
Mutation type:Delins; Delins Mutation effect:Frameshift; Frameshift Nucleotide number:340; 340
Genome location:Exon5; Exon5 Subdomain:EGF1; EGF1
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 NA 0-1Y homo NA NA <1 I PF, OD, hypertension 0-1y Israel congenital blindness (OD); Sibling died at 5D due to PF. consanguineous marriage. anticoagulant treatment PMID: 32980846