Search Results: 4 genotypes retrieved

Data download

c.431A>T

p.Asn144Ile
Mutation type:Point Mutation effect:Missense Nucleotide number:431
Genome location:Exon6 Subdomain:EGF2
Alpha missense prediction value:0.88 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 NA hetero NA NA NA I Other VTE NA France thrombosis (Other VTE) PMID: 10669160

c.431A>G

p.Asn144Ser
Mutation type:Point Mutation effect:Missense Nucleotide number:431
Genome location:Exon6 Subdomain:EGF2
Alpha missense prediction value:0.2672 Alpha missense prediction class:benign
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 NA 66 55 I Other VTE NA France NA PMID: 32717757
2 NA NA hetero NA 66 55 I asymptomatic NA France NA PMID: 32717757

c.432_435delCGGCinsA

p.Asn144Lys_Gly145del
Mutation type:Delins Mutation effect:Inframe Nucleotide number:432
Genome location:Exon6 Subdomain:EGF2
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 NA NA NA I Other VTE NA UK thrombosis (Other VTE) PMID: 7482420; PMID: 8462980
2 NA NA hetero NA NA NA I Other VTE NA UK thrombosis (Other VTE) PMID: 7482420; PMID: 8462980
3 NA NA hetero NA NA NA I Other VTE NA UK thrombosis (Other VTE) PMID: 7482420; PMID: 8462980

c.[432_435delCGGCinsA]; [432_435delCGGCinsA]

p.[Asn144Lys_Gly145del]; [Asn144Lys_Gly145del]
Mutation type:Delins; Delins Mutation effect:Inframe; Inframe Nucleotide number:432; 432
Genome location:Exon6; Exon6 Subdomain:EGF2; EGF2
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 NA homo <1 NA <1 I recurrent Other VTE NA UK NA PMID: 7482420; PMID: 8462980