Version 2.77

Part Description

LP35654-0   MLL gene
The MLL gene (lysine (K)-specific methyltransferase 2A) [HGNC Gene ID: 7132] is located on chromosome 11q23. This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010] [NCBI Gene ID:4297] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
MLL gene mutations tested for
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
MLL gene Mut Tested Bld/T
Display Name
MLL gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
MLL gene variants tested for, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.15
Last Updated
Version 2.15
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen MLL Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Mutaciones del gen MLL analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) MLL gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) MLL, gene , mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene MLL Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
ko-KR Korean (Korea, Republic Of) MLH1 유전자 돌연변이 분석용:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) MLL-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: MLL gen molgen
pt-BR Portuguese (Brazil) MLL teste para mutação do gene:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Tested; Mutation; HRX; ALL1; myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); ALL-1; HTRX; HTRX1; TRX1; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) MLL ген мутации тестирован на:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация тестирован;анализ проведен на;исследован на Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) MLL geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) MLL 基因 已测试的突变:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: ALL1 ALL-1 ALL-1;CXXC7;FLJ11783;HRX;HTRX1;KMT2A;MLL/GAS7;MLL1A;TET1-MLL;TRX1;myeloid/lymphoid or mixed lineage leukemia;Mixed Lineage Leukemia;混合谱系白血病;myeloid/lymphoid lineage leukemia;髓性白血病;髓系/淋巴系白血病 HRX HTRX HTRX1 TRX1 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 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 存在;存在与否;特征标识;身份;身份标识 已检测的;已检验的;经检测的;经检验的;经测试的;经过检测的;经过检验的;经过测试的 已检测的突变;已检验的突变;经检测的突变;经检验的突变;经测试的突变;经过检测的突变;经过检验的突变;经过测试的突变 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 突变 突变类;基因突变 血;血液 遗传基因;遗传因子;吉恩;生物基因 髓/淋巴混合系白血病 (三胸(果蝇)同源基因) 髓/淋系或混合型白血病 (三胸(果蝇)同源基因) 髓/淋系或混合性白血病 (三胸(果蝇)同源基因) 髓/淋系或混合系白血病 (三胸(果蝇)同源基因) 髓系/淋巴样或混合型白血病 (三胸(果蝇)同源基因) 髓系/淋巴样或混合性白血病 (三胸(果蝇)同源基因) 髓系/淋巴样或混合系白血病 (三胸(果蝇)同源基因) 髓系/淋巴系或混合型白血病 (三胸(果蝇)同源基因) 髓系/淋巴系或混合性白血病 (三胸(果蝇)同源基因) 髓系/淋巴系或混合系白血病 (三胸(果蝇)同源基因) 髓系/淋巴系或混合系白血病 (三胸(果蝇)同源基因) (Myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)) 髓系/淋巴细胞性或混合型白血病 (三胸(果蝇)同源基因) 髓系/淋巴细胞性或混合性白血病 (三胸(果蝇)同源基因) 髓系/淋巴细胞性或混合系白血病 (三胸(果蝇)同源基因) 髓系/淋巴细胞或混合型白血病 (三胸(果蝇)同源基因) 髓系/淋巴细胞或混合性白血病 (三胸(果蝇)同源基因) 髓系/淋巴细胞或混合系白血病 (三胸(果蝇)同源基因) 髓系/淋系或混合型白血病 (三胸(果蝇)同源基因) 髓系/淋系或混合性白血病 (三胸(果蝇)同源基因) 髓系/淋系或混合系白血病 (三胸(果蝇)同源基因)

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=38905-6