LP193289-8
CLRN1 gene.c.144T>G
Active
Description
The CLRN1 (clarin 1) gene [HGNC Gene ID: 12605] is located on chromosome 3q25. This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008][NCBI Gene ID: 7401] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Display Name
- CLRN1 gene c.144T>G
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-06-06
- Construct for LOINC Short Name
- CLRN1 c.144T>G
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=LP193289-8
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CLRN1 基因.c.144T>G |
| es-ES | Spanish (Spain) | Gen CLRN1 c.144T>G |
| it-IT | Italian (Italy) | CLRN1, gene.c.144T>G |
| tr-TR | Turkish (Turkey) | CLRN1 geni.c.144T>G |
| nl-NL | Dutch (Netherlands) | CLRN1-gen.c.144T>G Synonyms: CLRN1 gen.c.144T>G |
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