Version 2.77

Part Description

LP19704-3   FGFR2 gene
The FGFR2 gene (fibroblast growth factor receptor 2) [HGNC Gene ID:3689] is located on chromosome 10q26. The protein encoded by this gene is a member of the fibroblast growth factor receptor 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 is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009] [NCBI Gene ID:2263] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
FGFR2 gene mutations tested for
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
FGFR2 gene Mut Tested Bld/T
Display Name
FGFR2 gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
FGFR2 gene variants tested for, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 1.0m
Last Updated
Version 2.13
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) determinación de mutaciones del gen FGFR2:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ES Spanish (Spain) Gen FGFR2 Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Mutaciones del gen FGFR2 analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) FGFR2 gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) FGFR2, gene , mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene FGFR2 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
ko-KR Korean (Korea, Republic Of) FGFR2 유전자 돌연변이 검사용:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) FGFR2-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: FGFR2 gen molgen
pt-BR Portuguese (Brazil) FGFR2 teste para mutação do gene:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Bacteria expressed kinase; Keratinocyte growth factor receptor; Craniofacial dysostosis 1; Crouzon syndrome; Pfeiffer syndrome; Jackson-Weiss syndrome; BEK; BFR-1; CEK3; CFD1; ECT1; JWS; K-SAM; KGFR; KSAM-1; TK14; TK25; Fibroblast growth factor receptor 2; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Tested; Mutation; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) FGFR2 ген мутации тестирован на:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация тестирован;анализ проведен на;исследован на Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) FGFR2 geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) FGFR2 基因 已测试的突变: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: BEK;BFR-1;CEK3;CFD1;Crouzon 综合征;ECT1;Jackson-Weiss 综合征;JWS;KGFR;K-SAM;KSAM-1;Pfeiffer 综合征;TK14;TK25;先天性颅面骨发育不全 1;克鲁宗氏病 1;克鲁松氏症候群;成纤维细胞生长因子受体 2;柯鲁松氏综合征;细菌表达性激酶;角化细胞生长因子受体;角质化细胞生长因子受体;颅缝早闭综合征;颅面骨发育不全 1;颅面骨发育不良症候群 1;颅骨提前愈合症;颅骨面骨发育不全 1 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 存在;存在与否;特征标识;身份;身份标识 已检测的;已检验的;经检测的;经检验的;经测试的;经过检测的;经过检验的;经过测试的 已检测的突变;已检验的突变;经检测的突变;经检验的突变;经测试的突变;经过检测的突变;经过检验的突变;经过测试的突变 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 突变 突变类;基因突变 血;血液 遗传基因;遗传因子;吉恩;生物基因

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=21675-4