Search Results: 3 genotypes retrieved

Data download

c.479G>A

p.Cys160Tyr
Mutation type:Point Mutation effect:Missense Nucleotide number:479
Genome location:Exon6 Subdomain:EGF2
Alpha missense prediction value:0.9503 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 34 hetero 45 48 37 I Other VTE 34 France NA PMID: 32717757

c.479G>C

p.Cys160Ser
Mutation type:Point Mutation effect:Missense Nucleotide number:479
Genome location:Exon6 Subdomain:EGF2
Alpha missense prediction value:0.9755 Alpha missense prediction class:pathogenic
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 NA 60 NA I Other VTE NA Spain thrombosis (Other VTE) PMID: 31254973
2 NA NA hetero NA NA NA I NA NA Spain NA PMID: 31254973
3 NA NA hetero NA NA NA I NA NA Spain NA PMID: 31254973
4 NA NA hetero NA NA NA I NA NA Spain NA PMID: 31254973
5 NA NA hetero NA NA NA I NA NA Spain NA PMID: 31254973

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; 0.9503 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