Search Results: 3 genotypes retrieved

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c.529_532delCCCG

p.Pro177GlnfsX2
Mutation type:Deletion Mutation effect:Frameshift Nucleotide number:529
Genome location:Exon6 Subdomain:EGF2
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 50 NA 50 I asymptomatic NA China NA PMID: 7482420; PMID: 1611081
2 NA NA hetero 50 NA 50 I asymptomatic NA China NA PMID: 7482420; PMID: 1611081

c.530C>T

p.Pro177Leu
Mutation type:Point Mutation effect:Missense Nucleotide number:530
Genome location:Exon6 Subdomain:EGF2
Alpha missense prediction value:0.1747 Alpha missense prediction class:benign
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 67 NA NA NA Other VTE NA Germany thrombosis (Other VTE) PMID: 22627591

c.[529_532delCCCG]; [1253G>A]

p.[Pro177GlnfsX2]; [Gly418Asp]
Mutation type:Deletion; Point Mutation effect:Frameshift; Missense Nucleotide number:529; 1253
Genome location:Exon6; Exon9 Subdomain:EGF2; Serine protease
Alpha missense prediction value:0.9908 Alpha missense prediction class: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 1D c.hetero <1 NA <1 I PF 1D China NA PMID: 7482420; PMID: 1611081