LP265705-6
IDH1 gene
Active
Description
The IDH1 (isocitrate dehydrogenase 1, cytosolic) gene [HGNC Gene ID:5382] is located on chromosome 2 at 2q34. The IDH1 gene encodes the isocitrate dehydrogenase 1 enzyme, which is primarily found in cytoplasm of cells as well as in peroxisomes. Mutations in the IDH1 gene are associated with various conditions, including Maffucci syndrome, Ollier disease, cholangiocarcinoma, acute myeloid leukemia, myelofibrosis, gliomas, and chondrosarcomas. The mutations associated with Maffucci syndrome, Ollier disease, and other cancer-related conditions are somatic gain-of-function mutations in which the enzyme takes on a new, abnormal function.[MedlinePlus Gene:IDH1] Source: Regenstrief LOINC
Basic Part Properties
- Part Display Name
- IDH1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2018-01-05
- Construct for LOINC Short Name
- IDH1 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=LP265705-6
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | IDH1, gene Synonyms: Gene IDH1 |
| es-ES | Spanish (Spain) | Gen IDH1 |
| zh-CN | Chinese (China) | IDH1 基因 |
| nl-NL | Dutch (Netherlands) | IDH1-gen |
LOINC Copyright
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