Version 2.78

Part Description

LP36216-7   FGFR1 gene
The FGFR1 gene (fibroblast growth factor receptor 1) [HGNC Gene ID:3688] is located on chromosome 8p11.23-p11.22. The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2260] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
FGFR1 gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Long Common Name
FGFR1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name
FGFR1 gene Mut Anl Bld/T
Display Name
FGFR1 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
FGFR1 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.16
Last Updated
Version 2.73
Change Reason
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
Order vs. Observation
Both
Common Test Rank Get Info
12433

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen FGFR1 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen FGFR1:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) FGFR1 gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) FGFR1, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene FGFR1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) FGFR1 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) FGFR1-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: FGFR1 gen molgen targeted
pt-BR Portuguese (Brazil) FGFR1 análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: BFGFR; C-FGR; CEK; FLG; FLT2; H3; H4; H5; KAL2; N-SAM; fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome); Basic fibroblast growth factor receptor 1 precursor; H2; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) FGFR1 ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) FGFR1 geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) FGFR1 基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: BFGFR;CEK;C-FGR;FLG;FLT2;H2;H3;H4;H5;KAL2;N-SAM;成纤维细胞生长因子受体 1 (fms-相关酪氨酸激酶 2, Pfeiffer综合征);碱性成纤维细胞生长因子受体1前体 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因突变分析 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=42785-6