Version 2.80

Status Information

Status
DEPRECATED
Reason
Duplicate
Map-To Long Common Name Mapping Guidance
21695-2 HFE gene.p.Cys282Tyr [Presence] in Blood or Tissue by Molecular genetics method

Part Description

LP62766-8   HFE gene.c.845G>A
Hemochromatosis (HFE) gene mutation tested by PCR amplification of a portion of the HLA-H gene followed by restriction digestion with the enzyme Rsa I. The assay was used to detect the G845A (Cys282Tyr) mutation associated with hereditary hemochromatosis. Source: Regenstrief Institute

Fully-Specified Name

Component
HFE gene.c.845G>A
Property
Arb
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Long Common Name
Deprecated HFE gene c.845G>A [Presence] in Blood or Tissue by Molecular genetics method
Short Name
Deprecated HFE c.845G>A Bld/T Ql
Display Name
HFE gene c.845G>A Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
HFE gene c.845G>A, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.50 (DEL)
Change Reason
Changed Component part from p.G845A to c.845G>A since variant is described at coding level and to harmonize with HGVS nomenclature guidelines.;Assigned top2k rank to mapto term.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο HFE.c.845G>A:Arb:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: A Arb C Γονίδιο Γονίδιο HFE Γονίδιο HFE.c.845G>A
es-ES Spanish (Spain) Gen proteína G845A de Hemocromatosis Hereditaria:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen HFE c. 845G> A:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
it-IT Italian (Italy) HFE, gene.c.845G>A:Arb:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Arbitrario Gene HFE Gene HFE c.845G>A Genetica molecolare Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) HFE-gen.c.845G>A:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: HFE gen HFE gen.c.845G>A molgen
pt-BR Portuguese (Brazil) HFE gene.p.G845A:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; HFE p.G845A; HLAH; HH; Hereditary hemochromatosis; Haemochromatosis; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; P prime; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) HFE ген.c.845G>A:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Произвольный Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) HFE geni.c.845G>A:Sç:Zmlı:Kan/Dk:Srl:Molgen
zh-CN Chinese (China) HFE 基因.c.845G>A: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: A 型 C 型;丙;丙型 HFE p.G845A HH;HLAH;色素性肝硬变;血色沉着;血色沉着病;血色病;血色素沉着;血色素沉着病;血色素沉着症;遗传性色素性肝硬变;遗传性血色沉着;遗传性血色沉着病;遗传性血色病;遗传性血色素沉着;遗传性血色素沉着病;遗传性青铜色糖尿病;青铜色糖尿病 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=48577-1