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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 mutation	Chromosome rearrangement	Effect	Comments
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)