Discrete genetic variant   81252-9

LOINC Code


LOINC code81252-9
nameDiscrete genetic variant
descriptionThis term is used to report the unique identifier of the simple variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) has the ClinVar ID 30880 and would be reported in OBX-5 as 30880^NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)^ClinVar. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
statusTRIAL

Fully-Specified Name

componentSimple variant
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 nameSimple var 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 updated2.58
last change typeMIN  - change to field other than name

Related Names

Ident
Identifier
Molecular pathology
MOLPATH
Nominal
Point in time
Random

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.

demo
request yours today
subscribe
start today
newsletter
free subscription

Thank you for choosing Find-A-Code, please Sign In to remove ads.