LOINC
Version 2.68

81254-5Genomic allele start-endTrial

Status Information

Status
Trial

Term Description

The variant start-end location is the first genomic position in the reference allele that contains a change from the reference allele. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the variant exact start-end location is Chr3: 128906220 on Assembly GRCh38. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Source: Regenstrief LOINC

Fully-Specified Name

Component
Variant exact start-end
Property
ID
Time
Pt
System
^Patient
Scale
Nom
Method

Additional Names

Short Name
Gen allele loc ID
Display Name
Genomic allele start-end

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.68
Change Reason
Release 2.68: COMPONENT: Updated to make the reporting of variant location more generalizable (per the HL7 Clinical Genomics Working Group).
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

zh-CNChinese (CHINA)
基因组等位基因起止位置:标识符:时间点:^患者:名义型:
fr-FRFrench (FRANCE)
Allèle génomique (Début-fin):Identifiant:Ponctuel:Patient:Résultat nominal:
it-ITItalian (ITALY)
Posizione genomica dell'allele:ID:Pt:^Paziente:Nom:
es-ESSpanish (SPAIN)
Localización del alelo genómico:Código identificador:Punto temporal:^paciente:Nom:

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=81254-5