Discrete genetic variant panel   81250-3

LOINC Code


LOINC code81250-3
nameDiscrete genetic variant panel
descriptionThis panel is used to report the information associated with a simple genetic variant, such as a single nucleotide change. It should not be used to report information related to structural variants.
statusTRIAL

Fully-Specified Name

componentSimple variant panel
property-
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
scale-
method

Additional Names

short nameSimple var pnl

Basic Attributes

classPANEL.MOLPATH
type1  Laboratory
order vs. observationOrder

Panel Components

83005-9Variant category
83005-9Variant category
83005-9Variant category
81252-9Discrete genetic variant
81252-9Discrete genetic variant
81252-9Discrete genetic variant
48018-6Gene studied [ID]
48018-6Gene studied [ID]
48018-6Gene studied [ID]
51958-7Transcript reference sequence [ID]
51958-7Transcript reference sequence [ID]
51958-7Transcript reference sequence [ID]
48004-6DNA change (c.HGVS)
48004-6DNA change (c.HGVS)
48004-6DNA change (c.HGVS)
48005-3Amino acid change (pHGVS)
48005-3Amino acid change (pHGVS)
48005-3Amino acid change (pHGVS)
48019-4DNA change type
48019-4DNA change type
48019-4DNA change type
48006-1Amino acid change [Type]
48006-1Amino acid change [Type]
48006-1Amino acid change [Type]
48013-7Genomic reference sequence [ID]
48013-7Genomic reference sequence [ID]
48013-7Genomic reference sequence [ID]
81290-9Genomic DNA change (gHGVS)
81290-9Genomic DNA change (gHGVS)
81290-9Genomic DNA change (gHGVS)
69547-8Genomic ref allele [ID]
69547-8Genomic ref allele [ID]
69547-8Genomic ref allele [ID]
81254-5Genomic allele start-end
81254-5Genomic allele start-end
81254-5Genomic allele start-end
69551-0Genomic alt allele [ID]
69551-0Genomic alt allele [ID]
69551-0Genomic alt allele [ID]
84414-2Haplotype name
84414-2Haplotype name
84414-2Haplotype name
81255-2dbSNP [ID]
81255-2dbSNP [ID]
81255-2dbSNP [ID]
81257-8CIGAR [ID]
81257-8CIGAR [ID]
81257-8CIGAR [ID]
48001-2Cytogenetic (chromosome) location
48001-2Cytogenetic (chromosome) location
48001-2Cytogenetic (chromosome) location
48002-0Genomic source class [Type]
48002-0Genomic source class [Type]
48002-0Genomic source class [Type]
81304-8Variant analysis method [Type]
81304-8Variant analysis method [Type]
81304-8Variant analysis method [Type]
53037-8Genetic variation clinical significance [Imp]
53037-8Genetic variation clinical significance [Imp]
53037-8Genetic variation clinical significance [Imp]
69548-6Genetic variant assessment
69548-6Genetic variant assessment
69548-6Genetic variant assessment
81259-4Associated phenotype
81259-4Associated phenotype
81259-4Associated phenotype
53034-5Allelic state
53034-5Allelic state
53034-5Allelic state
81258-6Sample variant allelic frequency [NFr]
81258-6Sample variant allelic frequency [NFr]
81258-6Sample variant allelic frequency [NFr]
82121-5Allelic read depth
82121-5Allelic read depth
82121-5Allelic read depth
82120-7Allelic phase
82120-7Allelic phase
82120-7Allelic phase
82309-6Basis for allelic phase [Type]
82309-6Basis for allelic phase [Type]
82309-6Basis for allelic phase [Type]

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

81251-1Complex genetic variant panel
83011-7Haplotype definition panel
81247-9Master HL7 genetic variant reporting panel

History/Usage

first released
last updated2.58
last change typeMIN  - change to field other than name

Related Names

Molecular pathology
MOLPATH
Pan
Panel.molpath
Panl
Pnl
Point in time
Random
Simple var pnl

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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