Variant: rs121909567 

    present in Gene: SERPINC1
    present in Chromosome: 1
    Position on Chromosome: 173914570
    Alleles of this Variant: G/A

rs121909567 in SERPINC1 gene and Antithrombin III Deficiency PMID 23910795 2013 Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.

PMID 2781509 1989 Antithrombin Chicago, amino acid substitution of arginine 393 to histidine.

PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

PMID 7959685 1994 Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis.

PMID 1555650 1992 Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F.

PMID 3162733 1988 Single amino acid substitutions in the reactive site of antithrombin leading to thrombosis. Congenital substitution of arginine 393 to cysteine in antithrombin Northwick Park and to histidine in antithrombin Glasgow.

PMID 15164384 2004 Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors.

PMID 16908819 2006 Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation.

PMID 7989582 1994 Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp)

PMID 3191114 1988 Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site.

PMID 11713457 2001 Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate.

PMID 3080419 1986 Antithrombin III Basel. Identification of a Pro-Leu substitution in a hereditary abnormal antithrombin with impaired heparin cofactor activity.

PMID 9157604 1997 Antithrombin Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency.

PMID 1547341 1992 Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity.

PMID 9759613 1998 The molecular basis of antithrombin deficiency in Belgian and Dutch families.

PMID 9031473 1997 Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

PMID 8274732 1994 Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis.

PMID 8443391 1993 Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis.

PMID 7994035 1994 Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families.

PMID 2365065 1990 Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding.

PMID 2013320 1991 Site-directed mutagenesis of alanine-382 of human antithrombin III.

rs121909567 in SERPINC1 gene and Deep Vein Thrombosis PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.