95277-0
GJB1 gene deletion+duplication and full mutation analysis in Blood or Tissue by Molecular genetics method
Active
Part Description
LP32672-5 GJB1 gene
The GJB1 gene (gap junction protein, beta 1, 32kDa) [HGNC Gene ID:4283] is located on chromosome Xq13.1. This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008] [NCBI Gene ID:2705]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- GJB1 gene deletion+duplication & full mutation analysis
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- GJB1 gene Del+Dup + Full Mut Anl Bld/T
- Display Name
- GJB1 gene del+dup and full mutation analysis Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- GJB1 gene variant analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.68
- Last Updated
- Version 2.68
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen GJB1 estudio delecion+duplicacion y estudio mutacional completo: |
es-MX | Spanish (Mexico) | Deleción del gen GJB1 + duplicación y análisis de mutación completo: |
fr-FR | French (France) | GJB1 gène délétion+duplication et analyse complète des mutations: |
it-IT | Italian (Italy) | GJB1, gene Delezione+duplicazione & analisi di mutazione completa: Synonyms: delezione e duplicazione Gene GJB1 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | GJB1-gen deletie + duplicatie & volledige mutatie analyse: Synonyms: GJB1 gen molgen |
tr-TR | Turkish (Turkey) | GJB1 geni delesyon+duplikasyon ve tam mutasyon analizi: Synonyms: çiftleme |
zh-CN | Chinese (China) | GJB1 基因 缺失+重复与全面的突变分析: Synonyms: Charcot-Marie-Tooth 神经病, X 染色体连锁; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=95277-0
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright