Version 2.78

Part Description

LP145980-1   GALT gene.p.Gln188Arg
The GALT gene is located on chromosome 9p13.3 and encodes galactose-1-phosphate uridyl transferase, an enzyme that plays a key role in galactose metabolism. GALT mutations are associated with decreased or absent enzymatic activity, which results in the disease galactosemia. Three common mutations are p.Gln188Arg, p.Lys285Asn, and p.Ser135Leu. Classic galactosemia presents in the newborn period with vomiting, jaundice, hypoglycemia, hepatosplenomegaly, hypotonia and sepsis. If not treated immediately by removing lactose from the diet, the disease can be associated with severe disability or death. [OMIM: 230400] Source: Regenstrief LOINC, OMIM: 230400

Fully-Specified Name

Component
GALT gene.p.Gln188Arg
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
GALT p.Q188R Bld/T Ql
Display Name
GALT gene p.Gln188Arg Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
GALT gene p.Gln188Arg, Blood or tissue specimen

Example Answer List: LL2014-0

Source: Estonian Society of Laboratory Medicine
Answer Code Score Answer ID
Wild type LA9658-1
Heterozygous LA6706-1
Homozygous LA6705-3

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.40
Last Updated
Version 2.68
Change Reason
Property has been changed from Arb (arbitrary) to Pr (presence) to reflect our current model for Ordinal terms where the results are based on the presence or absence of a mutation or variant. Scale has been changed from Nom to Ord since results (e.g. present/absent or wildtype, heterozgous, homozygous) are ordinal. 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-ES Spanish (Spain) Gen GALT .p.Q188R:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen GALT p.Gln188Arg:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) GALT gène p.Gln188Arg:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) GALT, gene.p.Gln188Arg:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene GALT Gene GALT p.Gln188Arg Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) GALT-gen.p.Q188R:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: GALT gen GALT gen.p.Q188R molgen
pt-BR Portuguese (Brazil) GALT gene.p.Q188R::Pt:Sg/Tecido:Ord:Genética molecular
ru-RU Russian (Russian Federation) GALT ген.p.Q188R:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) GALT geni.p.Q188R:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) GALT 基因.p.Q188R: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: 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 半乳糖-1-磷酸尿苷酰转移酶（Galactose-1-phosphate uridylyltransferase，GALT）;半乳糖-1-磷酸尿苷酰转移酶基因 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=70248-0