LP193291-4
TMEM216 gene.c.218G>T
Active
Description
The TMEM216 (transmembrane protein 216) gene [HGNC Gene ID: 25018] is located on chromosome 11q13.1. This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010][NCBI Gene ID: 51259] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- TMEM216 gene.c.218G>T
- Part Display Name
- TMEM216 gene c.218G>T
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-06-06
- Construct for LOINC Short Name
- TMEM216 c.218G>T
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.
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | TMEM216 基因.c.218G>T |
| es-ES | Spanish (Spain) | Gen TMEM216 c.218G>T |
| it-IT | Italian (Italy) | TMEM216, gene.c.218G>T Synonyms: Gene TMEM216.c.218G>T |
| tr-TR | Turkish (Turkey) | TMEM216 geni.c.218G>T |
| nl-NL | Dutch (Netherlands) | TMEM216-gen.c.218G>T Synonyms: TMEM216 gen.c.218G>T |
| fr-FR | French (France) | TMEM216 gène mutation c.218G>T |
| pl-PL | Polish (Poland) | TMEM216 gen.c.218G>T Synonyms: Gen TMEM216 c.218G>T |
| el-GR | Greek (Greece) | Γονίδιο TMEM216 .c.218G>T Synonyms: Γονίδιο TMEM216 .c.218G>T |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://