Version 2.78

Term Description

2 possible substitutions
Source: Regenstrief LOINC

Fully-Specified Name

Component
GBA gene.c.1448T>G & 1448T>C
Property
Arb
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
GBA c.1448T>G & 1448T>C Bld/T Ql
Display Name
GBA gene c.1448T>G and 1448T>C Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
GBA gene c.1448T>G and 1448T>C, Blood or tissue specimen

Example Answer List: LL744-4

Source: Regenstrief Institute
Answer Code Score Answer ID
Detected LA11882-0
Not detected LA11883-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.13
Last Updated
Version 2.40
Change Reason
Term was erroneous. Updated Component part to describe mutation at coding level and harmonize with HGVS nomenclature guidelines.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) xilosa^1 hora después de la administración de 25 g de xilosa por vía oral:arbitrario:punto en el tiempo:tejido, no especificado:ordinal:genética molecular
es-ES Spanish (Spain) Gen GBA c.1448T>G y 1448T>C:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) GBA gene.c.1448T> G y 1448T> C:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) GBA gène mutations c.1448T>G et 1448T>C:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) GBA, gene.c.1448T>G & 1448T>C:Arb:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Arbitrario Gene GBA Gene GBA.c.1448T>G e 1448T>C Genetica molecolare Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) GBA유전자.g.T1448G+GBA gene.g.T1448C:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) GBA-gen.c.1448T>G & 1448T>C:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: GBA gen GBA gen.c.1448T>G & 1448T>C molgen
pt-BR Portuguese (Brazil) GBA gene.g.T1448G+GBA gene.g.T1448C:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; GBA g.T1448G+g.T1448C; GBA g.T1448G; GBA g.T1448C; Gaucher disease; Glucocerebrosidase gene; GBA1 (LL); GC (SP); GLUC (LL); Beta glucosidase gene; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) GBA ген.c.1448T>G & 1448T>C:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Произвольный Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) GBA geni.c.1448T>G ve 1448T>C:Sç:Zmlı:Kan/Dk:Srl:Molgen
zh-CN Chinese (China) GBA 基因.c.1448T>G 与 1448T>C:任意型:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: Beta 葡糖苷酶基因;Gaucher 氏病;Gaucher 病;Gauchers 氏病;Gauchers 病;GBA1 (LL);GC (SP);GLUC (LL);β葡糖苷酶基因;戈谢氏病;戈谢病;葡糖脑苷脂酶基因;高雪氏症;高雪病;高雪症 C 型;丙;丙型 G 型 GBA g.T1448G+g.T1448C;GBA 基因.c.1448T>G & 1448T>C 任意;任意的;人工型 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 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

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