71355-2
SLC26A5 gene c.-53-2A>G [Presence] in Blood or Tissue by Molecular genetics method
Active
Term Description
The solute carrier family 26, member 5 (SLC26A5) gene encodes Prestin and contains 21 exons. A single nucleotide change in the second intron, known as IVS2-2A>G (NM_198999.1:c.-53-2A>G), is associated with Sensorineural Hearing Loss (SNHL). This term was created for, but not limited to, Asper Biotech's Sensorineural Hearing Loss (SNHL) microarray testing for this mutation.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- SLC26A5 gene.c.-53-2A>G
- Property
- PrThr
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Ord
- Method
- Molgen
Additional Names
- Short Name
- SLC26A5 c.-53-2A>G Bld/T Ql
- Display Name
- SLC26A5 gene c.-53-2A>G Molgen Ql (Bld/Tiss)
- Consumer Name Alpha Get Info
- SLC26A5 gene c.-53-2A>G, Blood or tissue specimen
Example Answer List: LL1311-1
Source: Consensus measures for Phenotypes and Exposures| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Not present | 1 | LA14895-9 | |
| PresentCopyright http://snomed.info/sct ID:52101004 Present (qualifier value) | 2 | LA9633-4 |
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.40
- Last Updated
- Version 2.56
- Change Reason
- The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Gen SLC26A5.c.-53-2A> G: |
| es-ES | Spanish (Spain) | Gen SLC26A5 .c.-53-2A>G: |
| fr-FR | French (France) | SLC26A5 gène mutation c.-53-2A>G: |
| it-IT | Italian (Italy) | SLC26A5, gene.c.-53-2A>G: Synonyms: Gene SLC26A5 c.-53-2A> |
| nl-NL | Dutch (Netherlands) | SLC26A5-gen.c.-53-2A>G: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | SLC26A5 gene.c.-53-2A>G: |
| ru-RU | Russian (Russian Federation) | SLC26A5 ген.c.-53-2A>G: Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | SLC26A5 geni.c.-53-2A>G: Synonyms: Mevcut |
| zh-CN | Chinese (China) | SLC26A5 基因.c.-53-2A>G: Synonyms: C 型; |
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=71355-2
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright