Search Results: 3 genotypes retrieved

Data download

c.547T>C

p.Cys183Arg
Mutation type:Point Mutation effect:Missense Nucleotide number:547
Genome location:Exon7 Subdomain:Linker
Alpha missense prediction value:0.9652 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 NA NA Netherlands NA PMID: 7482420

c.548G>T

p.Cys183Phe
Mutation type:Point Mutation effect:Missense Nucleotide number:548
Genome location:Exon7 Subdomain:Linker
Alpha missense prediction value:0.9646 Alpha missense prediction class:pathogenic
No. of patients reported: 4
Patient information: Monoallelic variation (4); 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 59.7 57 56.7 I Other VTE NA France NA PMID: 32717757
2 NA NA hetero 59.7 57 56.7 I Other VTE NA France NA PMID: 32717757
3 NA NA hetero 59.7 57 56.7 I asymptomatic NA France NA PMID: 32717757
4 NA NA hetero 51 NA NA I Other VTE NA Germany thrombosis (Other VTE) PMID: 22627591

c.548G>A

p.Cys183Tyr
Mutation type:Point Mutation effect:Missense Nucleotide number:548
Genome location:Exon7 Subdomain:Linker
Alpha missense prediction value:0.9755 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 51 48 I NA NA Germany NA PMID: 7482420