LP343960-3
Fetal chromosome region 4p16 deletion
Active
Description
The WFS1 gene (Wolfram syndrome 1 (wolframin)) [HGNC Gene ID:12762] is located on chromosome 4p16.1. This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] [NCBI Gene ID:7466] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Display Name
- Fetal chromosome region 4p16 deletion
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2019-05-04
- Construct for LOINC Short Name
- Chr 4p16 del
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=LP343960-3
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| pl-PL | Polish (Poland) | Delecja regionu chromosomowego 4p16 u płodu Synonyms: Delecja prązka 4 krótkie ramienia chromosomu 4 u płodu |
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright