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 Name
- CFTR gene.c.394delTT
- 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
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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 |
| fr-FR | French (France) | CFTR gène mutation c.394delTT |
| pl-PL | Polish (Poland) | CFTR gen.c.394delTT Synonyms: Gen CFTR c.394delTT |
| el-GR | Greek (Greece) | Γονίδιο CFTR c.394delTT Synonyms: Γονίδιο CFTR c.394delTT |
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://