Version 2.78

Part Description

LP182316-2   MT-ND6 gene.m.14459G>A
The MT-ND6 (mitochondrially encoded NADH dehydrogenase 6) gene mutation that can cause Leigh syndrome, written as G14459A or Ala72Val, replaces the amino acid alanine with the amino acid valine at protein position 72. This genetic change also has been found in people with Leber hereditary optic neuropathy and a movement disorder called dystonia, which involves involuntary muscle contractions, tremors, and other uncontrolled movements. This mutation appears to disrupt the normal assembly or activity of complex I in mitochondria. It is not known, however, how this MT-ND6 gene alteration is related to the specific features of Leigh syndrome, Leber hereditary optic neuropathy, or dystonia. It also remains unclear why a single mutation can cause such varied signs and symptoms in different people. Source: Genetic Home Reference, National Library of Medicine, MT-ND6 G14459A

Fully-Specified Name

Component
MT-ND6 gene.m.14459G>A
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
MT-ND6 m.14459G>A Bld/T Ql
Display Name
MT-ND6 gene m.14459G>A Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
MT-ND6 gene m.14459G>A, 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 2.48
Last Updated
Version 2.56
Change Reason
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 de la proteína mitocondrial NADH deshidrogenasa subunidad 6. Mutación m.14459G>A:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) MT-ND6 gen.m.14459G> A:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-CA French (Canada) Gène MT-ND6.m.14459G>A:Présence-Seuil:Temps ponctuel:Sang/Tissu:Ordinal:Molgen
fr-FR French (France) MT-ND6 gène mutation m.14459G>A:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) MT-ND6, gene.m.14459G>A:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene MT-ND6 m.14459G>A Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) MT-ND6-gen.m.14459G>A:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen MT-ND6 gen.m.14459G>A
pt-BR Portuguese (Brazil) MT-ND6 gene.m.14459G>A::Pt:Sg/Tecido:Ord:Genética molecular
ru-RU Russian (Russian Federation) MT-ND6 ген.m.14459G>A:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) MT-ND6 geni.m.14459G>A:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) MT-ND6 基因.m.14459G>A: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: A 型 M 型 NADH 脱氢酶, 亚单位 6 (复合体 I) 基因 NADH 脱氢酶, 亚基 6 (复合体 I) 基因 NADH-CoQ 氧化还原酶链 6 基因 NADH-泛醌氧化还原酶链 6 基因 NADH-辅酶 Q 氧化还原酶链 6 基因 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=74692-5