40871-6
CNBP gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
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
- 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: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen CNBP: |
| fr-FR | French (France) | CNBP gène mutation cible trouvée: |
| it-IT | Italian (Italy) | CNBP, gene analisi di mutazione mirata: Synonyms: Gene CNBP Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | ZNF9 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | ZNF9-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted ZNF9 gen |
| pt-BR | Portuguese (Brazil) | ZNF9 análise de mutação genética: Synonyms: Proximal myotonic myopathy; |
| ru-RU | Russian (Russian Federation) | ZNF9 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | ZNF9 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | ZNF9 基因 突变分析: Synonyms: CNBP; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=40871-6
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