LP36025-2
CHD7 gene
Active
Description
The CHD7 gene (chromodomain helicase DNA binding protein 7) [HGNC Gene ID:20626] is located on chromosome 8q12.2. This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. [provided by RefSeq, Jul 2008] [NCBI Gene ID:55636] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- CHD7 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-08-26
- Construct for LOINC Short Name
- CHD7 gene
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/$lookup?system=http: //loinc.org&code=LP36025-2 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP36025-2
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CHD7 基因 Synonyms: FLJ20357; |
| et-EE | Estonian (Estonia) | CHD7 geen |
| es-ES | Spanish (Spain) | Gen CHD7 |
| it-IT | Italian (Italy) | CHD7, gene Synonyms: Gene CHD7 |
| tr-TR | Turkish (Turkey) | CHD7 geni |
| ru-RU | Russian (Russian Federation) | CHD7 ген |
| nl-NL | Dutch (Netherlands) | CHD7-gen Synonyms: CHD7 gen |
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