F5 gene.p.Arg506Gln:PrThr:Pt:Bld/Tiss:Ord:Molgen

Preferred Label : F5 gene.p.Arg506Gln:PrThr:Pt:Bld/Tiss:Ord:Molgen;

LOINC status : ACTIVE;

LOINC display name : F5 gene p.Arg506Gln Molgen Ql (Bld/Tiss);

LOINC long common name : F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method;

LOINC short name : F5 p.R506Q Bld/T Ql;

LOINC description : Factor V Leiden R506Q assays allow for the detection and genotyping of a single point mutation (G to A at position 1691, [NCBI dbSNP ID: rs6025]) of the human Factor V (F5) gene which leads to an amino acid change from arginine to glutamine (R506Q) in the F5 protein. Expected results include wild type, heterzygous, or homozygous for the R506Q (or 1691G A) mutation.;

Details

Origin ID

21668-9;

UMLS CUI

C0804458;

Has component
- F5 gene [LOINC component]
- F5 gene p.Arg506Gln [LOINC component]
- Gene [LOINC component]
Has method
- Molecular genetics [LOINC method]
Has property
- Presence or Threshold [LOINC Property]
Has scale
- Ord [LOINC scale]
Has system
- Blood [LOINC System]
- Blood or Tissue [LOINC System]
- Tissue and Smears [LOINC System]
Has time aspect
- Point in time (spot) [LOINC time aspect]
Semantic type(s)
- Clinical Attribute [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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