Version 2.78

Part Descriptions

LP411024-5   HTR2C gene.c.551-3008C>G
The rs1414334 (c.551-3008C>G) variant located in the HTR1C gene is associated with metabolic syndrome in patients treated with antipsychotics, particularly clozapine or risperidone. Patients who are carriers of the rs1414334 C allele have been found to have an increased risk for the metabolic syndrome. PMID: 19142101 [NCBI Clinvar ID: RCV000211197] 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.551-3008C>G
Property
Geno
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
HTR2C c.551-3008C>G Geno Bld/T
Display Name
HTR2C gene c.551-3008C>G genotype Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
HTR2C gene c.551-3008C>G genotype, Blood or tissue specimen

Example Answer List: LL3049-5

Source: Mayo Medical Laboratories
Answer Code Score Answer ID
C/C (wild type) LA13521-2
C/G (heterozygous) LA21535-2
G/G (homozygous) LA20174-1

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.67
Last Updated
Version 2.68
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen HTR2C c.551-3008C> G:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Gen HTR2C c.551-3008C> G:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) HTR2C gène mutation c.551-3008C>G:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) HTR2C, gene.c.551-3008C>G:Geno:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Farmacogenomica Gene HTR2C c.551-3008C>G Genetica molecolare Genotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
zh-CN Chinese (China) HTR2C 基因.c.551-3008C>G:基因型:时间点:全血/组织:名义型: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 G 型 HTR1C 五羟色胺受体 2C 基因 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 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 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=93192-3