Discrete genetic variant 81252-9
LOINC Code
LOINC code | 81252-9 | ||||||
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name | Discrete genetic variant | ||||||
description | This 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/] | ||||||
status | TRIAL | ||||||
Fully-Specified Name | |||||||
component | Simple variant | ||||||
property | ID = Identifier | ||||||
time | Pt = 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 | ||||||
scale | Nom = 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 name | Simple var ID | ||||||
Basic Attributes | |||||||
class | MOLPATH | ||||||
type | 1 Laboratory | ||||||
order vs. observation | Observation | ||||||
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 | |||||||
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History/Usage | |||||||
first released | |||||||
last updated | 2.58 | ||||||
last change type | MIN - change to field other than name | ||||||
Related Names | |||||||
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