LOINC
Version 2.68

LP19747-2NF1 geneActive

Descriptions

LP19747-2   NF1 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

LP19747-2   NF1 gene
The NF1 gene (neurofibromin 1) [HGNC Gene ID:7765] is located on chromosome 17q11.2. This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4763] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Name
NF1 gene
Type
Component
Created On
2000-05-04
Construct for LOINC Short Name
NF1 gene

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19747-2

Language Variants Get Info

zh-CNChinese (CHINA)
NF1 基因
Synonyms: WSS;多发性神经纤维瘤;多发性神经纤维瘤病;沃森病;神经纤维瘤;神经纤维瘤病;神经纤维瘤蛋白 1;神经纤维瘤蛋白 1 (Neurofibromin 1);神经纤维蛋白 1;神经纤维蛋白 1 (Neurofibromin 1);范-瑞克林豪森氏病;雷克林霍森氏病;Neurofibromin 1;NFNS;von Recklinghausen 氏病;von Recklinghausen 病;Von Recklinghausen 综合征;VRNF;Watson 病
nl-NLDutch (NETHERLANDS)
NF1-gen
Synonyms: NF1 gen
et-EEEstonian (ESTONIA)
NF1 geen
it-ITItalian (ITALY)
NF1, gene
Synonyms: Gene NF1
ru-RURussian (RUSSIAN FEDERATION)
NF1 ген
es-ESSpanish (SPAIN)
Gen NF1
Synonyms: Enfermedad de von Recklinghausen;Neurofibromatosis;Neurofibromin 1;NFNS;VRNF;Watson disease;WSS
tr-TRTurkish (TURKEY)
NF1 geni
Synonyms: Neurofibromatosis