Version 2.78

Part Descriptions

LP185937-2   HTR2C gene.c.796G>C
Antidepressant and antipsychotic medication selection may be determined based on a patient's genotype for various polymorphisms within the HTR2A and HTR2C genes, which encode the serotonin (5-hydroxytryptamine) receptors HTR2A and HTR2C. PMID: 15121641 Variants in HTR2A, for example c.102T>C and c.-1438G>A, have been found to affect response to selective serotonin reuptake inhibitors (SSRI) and risk for adverse drug reactions as well as response to the antipsychotic drugs clozapine and aripiprazole. PMID: 14514498, PMID: 10821369 Patients treated with antipsychotics and having significant weight gain have been positively correlated with a polymorphism in the promoter region of HTR2C, c.759C>T, where those with the -759T variant allele showed significantly less weight gain than those without this allele. PMID: 12668355 Source: Regenstrief LOINC

LP40503-2   HTR2C gene
Serotonin (5-hydroxytryptamine, 5-HT), a neurotransmitter, elicits a wide array of physiological effects by binding to several receptor subtypes, including the 5-HT2 family of seven-transmembrane-spanning, G-protein-coupled receptors, which activate phospholipase C and D signaling pathways. The HTR2C gene, located at Xq24, encodes the 2C subtype of serotonin receptor and its mRNA is subject to multiple RNA editing events, where genomically encoded adenosine residues are converted to inosines. RNA editing is predicted to alter amino acids within the second intracellular loop of the 5-HT2C receptor and generate receptor isoforms that differ in their ability to interact with G proteins and the activation of phospholipase C and D signaling cascades, thus modulating serotonergic neurotransmission in the central nervous system. Studies in humans have reported abnormalities in patterns of 5-HT2C editing in depressed suicide victims. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] Source: NCBI Reference Sequence, HTR2C gene

Fully-Specified Name

Component
HTR2C gene.c.796G>C
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
HTR2C c.796G>C Bld/T Ql
Display Name
HTR2C gene c.796G>C Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
HTR2C gene c.796G>C, Blood or tissue specimen

Example Answer List: LL3029-7

Source: Regenstrief LOINC
Answer Code Score Answer ID
G/G (wild type) LA19932-5
G/C (heterozygous) LA21511-3
C/C (homozygous) LA21506-3

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.67
Change Reason
Release 2.67: CLASS: Updated to MOLPATH.PHARMG, the more representative LOINC Class for this concept.; Previous Releases: The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen HTR2C c.796G>C:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen HTR2C c.796G> C:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) HTR2C gène mutation c.796G>C:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) HTR2C, gene.c.796G>C:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Farmacogenomica Gene HTR2C c.796G>C Genetica molecolare Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) HTR2C-gen.c.796G>C:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: HTR2C gen.c.796G>C molgen
tr-TR Turkish (Turkey) HTR2C geni.c.796G>C:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) HTR2C 基因.c.796G>C:存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: 5HT-1C 5-HT2C 5-HT-2C 5-HTR2C 5-羟基色胺受体 2C 基因 5-羟色胺受体 2C 基因 5-羟色胺受体 2C 基因（5-hydroxytryptamine receptor 2C gene，5-HT-2C） C 型;丙;丙型 HTR1C 五羟色胺受体 2C 基因 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 血清素受体 2C 基因 血清素受体 2C 基因（serotonin receptor 2C gene） 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=75730-2