LOINC
Version 2.67

LP33555-1FMR1 geneActive

Descriptions

LP33555-1   FMR1 gene
Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Source: Online Mendelian Inheritance in Man®, Link to OMIM

LP33555-1   FMR1 gene
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

Basic Part Properties

Name
FMR1 gene
Type
Component
Created On
2004-05-11
Construct for LOINC Short Name
FMR1 gene

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP33555-1

Language Variants Get Info

zh-CNChinese (CHINA)
FMR1 基因
Synonyms: 脆性 X;脆性 X 智力低下 1;脆性 X 智力缺陷 1;脆性 X 智力迟钝 1;脆性 X 染色体综合征;脆性 X 综合征;脆性 X 综合征智力低下基因 1
nl-NLDutch (NETHERLANDS)
FMR1-gen
Synonyms: FMR1 gen
et-EEEstonian (ESTONIA)
FMR1 geen
fr-CAFrench (CANADA)
Gène FMR1
it-ITItalian (ITALY)
FMR1, gene
Synonyms: Gene FMR1
ru-RURussian (RUSSIAN FEDERATION)
FMR1 ген
es-ESSpanish (SPAIN)
Gen FMR1
Synonyms: FRAXA;Retraso mental X fragil 1;Síndrome X fragil;X fragil
tr-TRTurkish (TURKEY)
FMR1 geni
Synonyms: Retraso mental X fragil 1