Description

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

Basic Part Properties

Part Name
HFE gene.c.845G>A
Part Display Name
HFE gene c.845G>A
Part Type
Component (Describes the core component or analyte measured)
Created On
2007-03-09
Construct for LOINC Short Name
HFE c.845G>A

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP62766-8
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP62766-8

Language Variants Get Info

TagLanguageTranslation
zh-CNChinese (China)HFE 基因.c.845G>A
Synonyms: HFE p.G845A
et-EEEstonian (Estonia)HFE geen.p.G845A
es-ESSpanish (Spain)Gen proteína G845A de Hemocromatosis Hereditaria
it-ITItalian (Italy)HFE, gene.c.845G>A
Synonyms: Gene HFE c.845G>A
tr-TRTurkish (Turkey)HFE geni.c.845G>A
ru-RURussian (Russian Federation)HFE ген.c.845G>A
nl-NLDutch (Netherlands)HFE-gen.c.845G>A
Synonyms: HFE gen.c.845G>A
pl-PLPolish (Poland)HFE gen.c.845G>A
Synonyms: Gen HFE c.845G>A
el-GRGreek (Greece)Γονίδιο HFE.c.845G>A
Synonyms: Γονίδιο HFE.c.845G>A