F5 NM_000130.4:c.1601G>A

**Semantic type:** Cell or Molecular Dysfunction

**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.

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