Version 2.78

Fully-Specified Name

Component
MT-ATP6 gene.m.8993T>G
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
MT-ATP6 m.8993T>G Bld/T Ql
Display Name
MT-ATP6 gene m.8993T>G Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
MT-ATP6 gene m.8993T>G, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.15
Last Updated
Version 2.56
Change Reason
Changed Component part from c.T8993G to m.8993T>G since variant is located in a mitochondrial sequence and to harmonize with HGVS nomenclature guidelines.; 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 MT-ATP6 m.8993T>G:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen MT-ATP6 m.8993T> G:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) MT-ATP6 gène mutation m.8993T>G:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) MT-ATP6, gene.m.8993T>G:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene MT-ATP6 Gene MT-ATP6 m.8993T>G 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) MTATP6 유전자.c.T8993G:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) MT-ATP6-gen.m.8993T>G:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen MT-ATP6 gen MT-ATP6 gen.m.8993T>G
pt-BR Portuguese (Brazil) MTATP6 gene.c.T8993G:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; MTATP6 c.T8993G; ATP synthase 6; ATPASE 6; ATP6; Leigh syndrome; NARP syndrome; Neurogenic muscle weakness, ataxia and retinitis pigmentosa; ATP synthase A chain; 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) MT-ATP6 ген.m.8993T>G:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) MT-ATP6 geni.m.8993T>G:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) MT-ATP6基因.m.8993T>G: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: ATP 合成酶 6;ATP 合成酶 A 链;ATP 合酶 6;ATP 合酶 A 链;ATP6;ATPASE 6;Leigh 综合征;NARP 综合征;Neuropathy, ataxia and retinitis pigmentosa;亚急性坏死性脑脊髓病;偶发性, 周边神经病变伴有步态失调及视网膜色素沉着;神经性肌肉无力, 共济失调及色素性视网膜炎;神经病、共济失调及色素性视网膜炎 G 型 M 型 MTATP6 c.T8993G 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

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=40341-0