Version 2.78

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
Consumer Name Alpha Get Info
Variant exact 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

Tag Language Translation
es-ES Spanish (Spain) Localización del alelo genómico:Código identificador:Punto temporal:^paciente:Nom:
es-MX Spanish (Mexico) Variante de inicio-fin exacto:Identificador:Punto temporal:^ Paciente:Nominal:
fr-FR French (France) Variant exact (Début-fin):Identifiant:Ponctuel:Patient:Résultat nominal:
it-IT Italian (Italy) Posizione genomica dell'allele:ID:Pt:^Paziente:Nom:
Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio)
zh-CN Chinese (China) 结构变异确切起止位置:标识符:时间点:^患者:名义型:
Synonyms: 分子病理学;分子病理学试验 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 医疗服务对象;客户;病人;病患;病号;超系统 - 病人 时刻;随机;随意;瞬间 标识;身份标识符;身份标识 结构变异确切（精确）起止位置;基因组等位基因起始（起点、开头、开始、头）-结束（终点、结尾、终止、尾）位置;基因组等位基因位置 起始

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

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