CES1 gene.c.428G A:PrThr:Pt:Bld/Tiss:Ord:Molgen

Preferred Label : CES1 gene.c.428G A:PrThr:Pt:Bld/Tiss:Ord:Molgen;

LOINC status : ACTIVE;

LOINC display name : CES1 gene c.428G A Molgen Ql (Bld/Tiss);

LOINC long common name : CES1 gene c.428G A [Presence] in Blood or Tissue by Molecular genetics method;

LOINC short name : CES1 c.428G A Bld/T Ql;

LOINC description : The CES1 gene encodes carboxylesterase 1A1 (CES1A1), which is the key enzyme involved in the first-pass metabolism of methylphenidate (Ritalin). Presence of the CES1 Gly143Glu missense variant (c.428G A, [NCBI dbSNP ID: rs71647871]) results in decreased CES1A1 activity, which may lead to a higher than expected plasma concentration of methylphenidate and increase the risk of side effects.;

Details

Origin ID

79164-0;

UMLS CUI

C4070416;

Has component
- CES1 gene [LOINC component]
- CES1 gene c.428G>A [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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