Variant: rs121918148 

    present in Gene: PROC
    present in Chromosome: 2
    Position on Chromosome: 127421397
    Alleles of this Variant: A/C

rs121918148 in PROC gene and Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant PMID 8560401 1995 Protein C Osaka 10 with aberrant propeptide processing: loss of anticoagulant activity due to an amino acid substitution in the protein C precursor.

PMID 9798967 1998 Type I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels.

PMID 2437584 1987 Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.

PMID 8829639 1996 Two novel (R(-11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds.

PMID 1511989 1992 Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis.

PMID 1301959 1992 Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel electrophoresis.

PMID 1347706 1992 Protein CVermont: symptomatic type II protein C deficiency associated with two GLA domain mutations.

PMID 7865674 1994 Six missense mutations associated with type I and type II protein C deficiency and implications obtained from molecular modelling.

PMID 8292730 1993 Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency.

PMID 1868249 1991 The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.

PMID 2602169 1989 Protein C London 1: recurrent mutation at Arg 169 (CGG----TGG) in the protein C gene causing thrombosis.

PMID 8499568 1993 A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis.

PMID 8398832 1993 Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381-->Ser) in the substrate-binding pocket.

PMID 25748729 2015 Compound heterozygous protein C deficiency in a family with venous thrombosis: Identification and in vitro study of p.Asp297His and p.Val420Leu mutations.

PMID 7792728 1995 Six different point mutations in seven Danish families with symptomatic protein C deficiency.

PMID 25618265 2015 Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency.