LP145976-9
CFTR gene.c.394delTT
Active
Description
The cystic fibrosis transmembrane regulator (CFTR) mutation in exon 3 (394delTT, rs121908769) is commonly referred to as the 'Nordic CF mutation.' It is found at high frequencies in Denmark and other countries, including Sweden, Norway, Estonia, Finland, Russia, etc., that border the Baltic Sea and associated waterways. PMID: 7509310 Source: Regenstrief LOINC, PMID: 7509310
Basic Part Properties
- Part Display Name
- CFTR gene c.394delTT
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2012-02-24
- Construct for LOINC Short Name
- CFTR c.394delTT
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=LP145976-9
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CFTR 基因.c.394delTT |
| es-ES | Spanish (Spain) | Gen CFTR.c.394delTT |
| it-IT | Italian (Italy) | CFTR, gene.c.394delTT Synonyms: Gene CFTR c.394 delezione TT |
| tr-TR | Turkish (Turkey) | CFTR geni.c.394delTT |
| ru-RU | Russian (Russian Federation) | CFTR ген.c.394delTT |
| nl-NL | Dutch (Netherlands) | CFTR-gen.c.394delTT Synonyms: CFTR gen.c.394delTT |
LOINC Copyright
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