LOINC Home

{component}   LP432695-7

Laboratory   LP29693-6

Molecular pathology   LP7822-2

Genetics results   LP70194-3

HL7 genetics   LP70593-6

Amino acid change   LP62062-2

Amino acid change | Blood or Tissue | HL7 genetics   LP410540-1

Amino acid change (pHGVS)   48005-3

LOINC Code


LOINC code48005-3
nameAmino acid change (pHGVS)
descriptionHuman Genome Variation Society (HGVS) nomenclature for an amino acid sequence. This value is derivable from the DNA Marker value if available. It is provided for convenience. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.
statusACTIVE

Fully-Specified Name

componentAmino acid change
propertyFind  =  Finding
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.
systemBld/Tiss
    Bld  =  Whole blood
    Tiss  =  Tissue, unspecified
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.
methodMolgen  =  Molecular Genetics:  General class of methods used to detect genetic attributes on a molecular basis including RFL, PCR and other methods.

Additional Names

short nameAmino acid change

Basic Attributes

classHL7.GENETICS
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
55208-3DNA analysis discrete sequence variation panel
53042-8DNA marker assessed panel
53044-4DNA marker identified panel
53044-4DNA marker identified panel
53044-4DNA marker identified panel
53044-4DNA marker identified panel
48014-5Sequence variation panel - Blood or Tissue by Molecular genetics method

History/Usage

test rank4958 of 2000 most commonly performed tests by labs in USA
first released
last updated2.73
last change typeMIN  - change to field other than name
change reasonUpdated LCN per CJM for HL7 CG IG

Related Names

Acd
Acids
Blood
Exchange
Finding
Findings
Genetic
Genetics
Genomic
HL7.GENETICS
Molecular genetics
 MOLPATH.GENERAL
Nominal
PCR
Point in time
Random
Replace
Tissue
Tissue, unspecified
WB
Whole blood
Whole blood or Tissue

Copyright © 2023 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © 1995-2023, 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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