21759-6
FMR1 gene CGG repeats [Presence] in Blood or Tissue by Molecular genetics method
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Part Description
LP19788-6 FMR1 gene.CGG repeats
The FMR1 gene (fragile X mental retardation 1) [HGNC Gene ID:3775] is located on chromosome Xq27.3. The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010] [NCBI Gene ID:2332]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- FMR1 gene.CGG repeats
- Property
- PrThr
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Ord
- Method
- Molgen
Additional Names
- Short Name
- FMR1 gene CGG Rpt Bld/T Ql
- Display Name
- FMR1 gene CGG repeats Molgen Ql (Bld/Tiss)
- Consumer Name Alpha Get Info
- FMR1 gene CGG Repeats, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.NUCREPEAT
- Type
- Laboratory
- First Released
- Version 1.0m
- Last Updated
- Version 2.73
- Change Reason
- Changed Property from Arb (Arbitrary) to 'Threshold' since the results (e.g. positive, intermediate, negative) is based on the number of nucleotide repeats. Moved term from Class MOLPATH.TRINUC to MOLPATH.NUCREPEAT, a Class used to group together observations for nucleotide repeats.; 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
- Common Test Rank Get Info
- 6560
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-AR | Spanish (Argentina) | gen FMR1.repeticiones CGG: |
| es-ES | Spanish (Spain) | Repeticiones CGG del gen FMR1: |
| es-MX | Spanish (Mexico) | Gen FMR1 repeticiones CGG: |
| fr-FR | French (France) | FMR1 gène répétitions CGG: |
| it-IT | Italian (Italy) | FMR1, gene.CGG ripetizioni: Synonyms: FMR1 gene CGG Gene FMR1 Genetica molecolare Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Ripetizione nucleotidi Ripetizioni CGG del gene FMR1 Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | FMR1 유전자.CGG 반복: |
| nl-NL | Dutch (Netherlands) | FMR1-gen.CGG repeats: Synonyms: FMR1 gen FMR1 gen CGG FMR1 gen.CGG repeats molgen |
| pt-BR | Portuguese (Brazil) | FMR1 gene.CGG repetições: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | FMR1 ген.CGG повторы: Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | FMR1 geni.CGG tekrarları: Synonyms: Mevcut |
| zh-CN | Chinese (China) | FMR1 基因.CGG 重复序列: Synonyms: 依次型; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=21759-6
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