Genomic allele start-end   81254-5

LOINC Code


LOINC code81254-5
nameGenomic allele start-end
descriptionThe 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/]
statusTRIAL

Fully-Specified Name

componentVariant exact start-end
propertyID  =  Identifier
timePt  =  Point in time:  To identify measures at a point in time. This is a synonym for “spot” or “random” as applied to urine measurements.
system^Patient
scaleNom  =  Nominal:  Nominal or categorical responses that do not have a natural ordering. (e.g., names of bacteria, reported as answers, categories of appearance that do not have a natural ordering, such as, yellow, clear, bloody.
method

Additional Names

short nameGen allele loc ID

Basic Attributes

classMOLPATH
type1  Laboratory
order vs. observationObservation

Associated Observations

LOINC codes that represent optional associated observation(s) for a clinical observation or laboratory test. A LOINC term may represent a single associated observation or panel containing several associated observations.

Member of these Panels

81250-3Discrete genetic variant panel
81250-3Discrete genetic variant panel
81250-3Discrete genetic variant panel

History/Usage

first released
last updated2.68
last change typeNAM  - change to Analyte/Component
change reasonRelease 2.68: COMPONENT: Updated to make the reporting of variant location more generalizable (per the HL7 Clinical Genomics Working Group).

Related Names

Ident
Identifier
Molecular pathology
MOLPATH
Nominal
Point in time
Random
Started

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2024, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.

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