Log In

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/

LOINC Names Get Info

Fully-Specified Name
Variant exact start-end:ID:Pt:^Patient:Nom:
Long Common Name
Genomic allele start-end
Short Name
Gen allele loc ID
Display Name
Genomic allele start-end
Consumer Name Alpha Get Info
Variant exact start-end

Part Model Get Info

  • Component
    Variant exact start-end
    LP212296-0
    • Analyte
      Variant exact start-end
      LP212296-0
      • Component Numerator
        Variant exact start-end
        LP212296-0
        • Component Numerator Core
          Variant exact start-end
          LP212296-0
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    ID
    LP6818-1
  • Time
    Pt
    LP6960-1
  • System
    ^Patient
    LP310005-6
    • System Core
      NULL
       
    • Super System
      Patient
      LP6985-8
  • Scale
    Nom
    LP7750-5
  • Method
    NULL
     

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.56
Last Updated
Version 2.68 (NAM)
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

LOINCLong Common Name
81247-9Master HL7 genetic variant reporting panel

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Varianta přesná počáteční a koncová pozice:Identifikátor:Časový bod:^Pacient:Nominální:
el-GRGreek (Greece)Ακριβές σημείο έναρξης-τέλους παραλλαγής:Αναγνωριστικό:Pt:^Ασθενής:Nom:
Synonyms: - MOLPATH Nom Pt Ακριβές σημείο έναρξης-τέλους παραλλαγής Αναγνωριστικό Ασθενής
es-ESSpanish (Spain)Localización del alelo genómico:Código identificador:Punto temporal:^paciente:Nom:
es-MXSpanish (Mexico)Variante de inicio-fin exacto:Identificador:Punto temporal:^ Paciente:Nominal:
fr-FRFrench (France)Variant exact (Début-fin):Identifiant:Ponctuel:^patient:Résultat nominal:
it-ITItalian (Italy)Posizione genomica dell'allele:ID:Pt:^Paziente:Nom:
Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio)
zh-CNChinese (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