Version 2.78

Part Description

LP19708-4   FGFR3 gene.p.Gly380Arg
The Gly380Arg mutation in the FGFR3 (fibroblast growth factor receptor 3) gene [HGNC Gene ID:3690] causes achondroplasia, the most common short-limbed skeletal dysplasia inherited in an autosomal dominant pattern. More than 90% of patients with achondroplasia have this mutation. Most cases (>80%) occur sporadically. In the other cases, patients inherited one or two copies from an affected parent. Individuals who inherit two copies of the mutation typically have a severe form of achondroplasia and usually are stillborn or die shortly after birth from respiratory failure.[MedlinePlus Condition: achondroplasia] Source: Regenstrief LOINC

Fully-Specified Name

Component
FGFR3 gene.p.Gly380Arg
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Long Common Name
FGFR3 gene p.Gly380Arg [Presence] in Blood or Tissue by Molecular genetics method
Short Name
FGFR3 p.G380R Bld/T Ql
Display Name
FGFR3 gene p.Gly380Arg Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
FGFR3 gene p.Gly380Arg, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 1.0m
Last Updated
Version 2.56
Change Reason
Changed Component name to align with the current HGVS recommendations to use the three letter codes for amnio acids. In the shortname, we kept the single letter codes.; 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

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) gen FGFR3.P.G380R:arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-ES Spanish (Spain) Gen FGFR3 p.G380R:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen FGFR3 p.Gly380Arg:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) FGFR3 gène p.Gly380Arg:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) FGFR3, gene.p.Gly380Arg:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene FGFR3 Gene FGFR3 p.Gly380Arg Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) FGFR3 유전자.p.G380R:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) FGFR3-gen.p.G380R:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: FGFR3 gen FGFR3 gen.p.G380R molgen
pt-BR Portuguese (Brazil) FGFR3 gene.p.G380R:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; FGFR3 p.G380R; Achondroplasia; ACH; Thanatophoric dwarfism; Thanatophoric dysplasia; CEK2; JTK4; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; P prime; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) FGFR3 ген.p.G380R:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) FGFR3 geni.p.G380R:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) FGFR3 基因.p.G380R:存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: ACH;CEK2;JTK4;先天性软骨发育不全;致死性侏儒;致死性侏儒症;致死性发育不良;致死性发育异常;软骨发育不全;软骨发育不全症;软骨生成不良症 FGFR3 p.G380R P 型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 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=21678-8