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GENATLAS PHENOTYPE
last update : 26-03-2010
Symbol AT3
Location 1q24-q25.1
Name antithrombin III deficiency
Corresponding gene SERPINC1
related resource Antithrombin Mutation Database
Main clinical features
  • thrombophilia, including increased risk of venous thromboembolism, type I, low plasma levels of both functional and immunological AT, type II (variant AT in plasma)
  • Genetic determination autosomal dominant
    Function/system disorder hematology
    Type disease
    Gene product
    Name serine proteinase inhibitor, clade C, member 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     mostly non recurrent missense mutations
    Remark(s)
  • deficiency of antithrombin III is a major risk factor for venous thromboembolic disease
  • large deletions, present at the heterozygous state, detected in several cases: whole gene deletions or partial deletions removing either exon 6, exons 1-2 or exons 5-7 (Picard 2010)