41750-1
COCH gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP35857-9 COCH gene
The COCH gene (cochlin) [HGNC Gene ID:2180] is located on chromosome 14q11.2-q13. The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008] [NCBI Gene ID:1690]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- COCH gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- COCH gene Mut Anl Bld/T
- Display Name
- COCH gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- COCH gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.16
- Last Updated
- Version 2.63
- Change Reason
- 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 COCH Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen COCH: |
| fr-FR | French (France) | COCH gène mutation cible trouvée: |
| it-IT | Italian (Italy) | COCH, gene analisi di mutazione mirata: Synonyms: Gene COCH Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | COCH 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | COCH-gen doelgerichte mutatie-analyse: Synonyms: COCH gen molgen targeted |
| pt-BR | Portuguese (Brazil) | COCH análise de mutação genética: Synonyms: COCH-5B2; |
| ru-RU | Russian (Russian Federation) | COCH ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | COCH geni Mutasyon analizi: |
| zh-CN | Chinese (China) | COCH 基因 突变分析: Synonyms: COCH5B2; |
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=41750-1
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