F2 NM_000506.4:c.*97G A

Preferred Label : F2 NM_000506.4:c.*97G A;

NCIt synonyms : Prothrombin G20210A; Factor II 20210G-A Mutation; F2 g.25313G A; F2 c.20210G A; NM_000506.4:c.*97G A; F2 20210G-A; Prothrombin 20210G A; F2 20210G A; NG_008953.1:g.25313G A; Coagulation Factor II, Thrombin 20210G A; Coagulation Factor II (Thrombin) 20210G A; F2 G20210A; F2 c.*97G A; F2, 20210G-A;

NCIt definition : A nucleotide substitution at position *97 in the 3' untranslated region of the F2 gene where guanine has been mutated to adenine.;

NCIt note : This variation in the F2 gene is associated with increased expression of the prothrombin protein and may cause increased susceptibility for thrombosis. This variant is also associated with increased susceptibility for both stroke and recurrent pregnancy loss. (OMIM);

SNP ID : rs1799963;

Details

Origin ID

C128467;

UMLS CUI

C4285107;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- F2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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