F5 NM_000130.4:c.1601G A

Preferred Label : F5 NM_000130.4:c.1601G A;

NCIt synonyms : FVL; F5 c.1601G A; NG_011806.1:g.41721G A; Coagulation Factor V (Proaccelerin, Labile Factor) c.1601G A; F5 1691G-A Transition Mutation; F5 Leiden Allele; Factor V Leiden Allele; F5 g.41721G A; Coagulation Factor V c.1601G A; Coagulation Factor V Leiden Allele; Coagulation Factor V (Proaccelerin, Labile Factor) Leiden Allele; NM_000130.4:c.1601G A; F5 1601G A;

NCIt definition : A nucleotide substitution at position 20 of the coding sequence of the HBB gene where adenine has been mutated to thymine. This gene variant, which encodes coagulation factor V Leiden protein, is involved in hypercoagulability due to resistance to degradation by activated protein C.;

SNP ID : rs6025;

Details

Origin ID

C91334;

UMLS CUI

C2984172;

Semantic type(s)
- Gene or Genome [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
- F5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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