Version 2.77

Part Description

LP34574-1   HFE gene.p.Ser65Cys
Hemochromatosis gene mutation causes Hereditary Hemochromatosis (HH) when serum transferrin-iron saturation results are elevated. HH is the most common autosomal recessive disease in the Caucasian population. HH causes excess iron absorption that leads to iron deposits in tissues and organs, eventually leading to organ dysfunction. Two point mutations in the HLA locus of chromosome 6 are responsible for the majority of HH cases-C282Y and H63D mutations. The S65C mutation is a mild mutation accounting for 1-4% of the carriers. Information from Wikipedia 2006 10 24. Source: Regenstrief Institute

Fully-Specified Name

Component
HFE gene.p.Ser65Cys
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
HFE p.S65C Bld/T Ql
Display Name
HFE gene.p.Ser65Cys Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
HFE gene p.Ser65Cys, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.14
Last Updated
Version 2.73
Change Reason
Changed Component name to align with the current HGVS recommendations to use the three letter codes for amnio acids. In the shortname, we kept the single letter codes.; 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
Common Test Rank Get Info
3076

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: HFE S65C Mut. B/T
de-DE German (Germany) HFE-Gen.p.Ser65Cys:Nachweis oder Schwellenwert:Zeitpunkt:Blut oder Gewebe:Ordinal:Molekulargenetisch
es-AR Spanish (Argentina) análisis de mutación del gen HFE:arbitrario:punto en el tiempo:tejido, no especificado:ordinal:genética molecular
es-ES Spanish (Spain) Gen HFE p.S65C:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen HFE p. Ser65Cys:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) HFE gène p.Ser65Cys:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) HFE, gene.p.Ser65Cys:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene HFE Gene HFE p.Ser65Cys 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) HFE 유전자.p.S65C:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) HFE-gen.p.S65C:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: HFE gen HFE gen.p.S65C molgen
pt-BR Portuguese (Brazil) HFE gene.p.S65C:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; HFE p.S65C; 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.p.S65C:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) HFE geni.p.S65C:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) HFE 基因.p.S65C: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: HFE p.S65C 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 P 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 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=38380-2