79164-0

LOINC 2.82

CES1 gene c.428G>A [Presence] in Blood or Tissue by Molecular genetics method

CES1 c.428G>A Bld/T Ql

Definition

  • 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.

Component

  • CES1 gene.c.428G>A

Specimen / system

  • Bld/Tiss

Class

  • MOLPATH.MUT

Property

  • PrThr

Scale

  • Ord

Method

  • Molgen

Related names

  • Blood; carboxylesterase 1; CE-1; CEH; CES1 c.428G>A; CES2; Genetics; hCE-1; Heredity; Heritable; HMSE; HMSE1; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Ordinal; PCE-1; PCR; Point in time; PR; QL; Qual; Qualitative; Random; REH; Screen; SES1; TGH; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • A
  • Blood
  • carboxylesterase 1
  • CE-1
  • CEH
  • CES1 c.428G&gt
  • CES1 gene.c.428G>A
  • CES2
  • Genetics
  • hCE-1
  • Heredity
  • Heritable
  • HMSE
  • HMSE1
  • Inherited
  • Molecular genetics
  • Molecular pathology
  • MOLPATH
  • MOLPATH.MUTATIONS
  • Ordinal
  • PCE-1
  • PCR
  • Point in time
  • PR
  • QL
  • Qual
  • Qualitative
  • Random
  • REH
  • Screen
  • SES1
  • TGH
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue