Version 2.78

Part Descriptions

LP35629-2   CNBP gene
The CNBP (CCHC-type zinc finger, nucleic acid binding protein) gene [NCBI Gene ID:7555] is located on chromosome 3q21. This gene encodes a nucleic-acid binding protein with seven zinc-finger domains. The protein has a preference for binding single stranded DNA and RNA. The protein functions in cap-independent translation of ornithine decarboxylase mRNA, and may also function in sterol-mediated transcriptional regulation. A CCTG expansion in the first intron of this gene results in myotonic dystrophy type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Source: National Center for Biotechnology Information (NCBI) Gene

LP35629-2   CNBP gene
The CNBP (ZNF9) gene contains a complex repeat motif, (TG)n(TCTG)n(CCTG), in intron 1 that varies in length for each repeat. Expansion of the CCTG repeat portion causes myotonic dystrophy type 2 (DM2).[NCBI Books: NBK1466] Normal alleles have 11-26 CCTG repeats, intermediate (premutation) alleles have 27-74 repeats, and mutated alleles have greater than 75 to more than 11,000 repeats. PMID: 11486088 The tetranucleotide repeat is somatically and meiotically unstable. When the repeat expansion is passed on from affected parent to offspring, the mutated allele can either expansion or contract within the disease range. PMID: 12601109 Source: Regenstrief LOINC

Fully-Specified Name

Component
CNBP gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Long Common Name
CNBP gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name
CNBP Mut Anl Bld/T
Display Name
CNBP gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
CNBP gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.15
Last Updated
Version 2.63
Change Reason
Updated gene name in Component from "ZNF9" to "CNBP", the current HGNC approved symbol.; Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen ZNF9 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen CNBP:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) CNBP gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) CNBP, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene CNBP Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) ZNF9 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) ZNF9-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen targeted ZNF9 gen
pt-BR Portuguese (Brazil) ZNF9 análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Proximal myotonic myopathy; PROMM; CNBP; CNBP1; DM2; HGNC:2924; PDM; RNF163; myotonic dystrophy type 2; zinc finger protein 273; Cellular nucleic acid binding protein (CNBP) (Zinc finger protein 9).; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) ZNF9 ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) ZNF9 geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) ZNF9 基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: CNBP;CNBP1;DM2;HGNC:2924;PDM;PROMM;RNF163;细胞性核酸结合蛋白 (CNBP) (锌指蛋白 9);细胞性核酸结合蛋白 (锌指蛋白 9);肌强直性营养不良 2 型;近端肌强直性肌病;近端肌强直性肌营养不良;锌指蛋白 273 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 基因突变分析 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

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