48005-3
LaboratoryAmino acid change (pHGVS)
Definition
Human 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.
LOINC 6-Axis Classification
Component
Amino acid change
Property
Find
Time Aspect
Pt
System
Bld/Tiss
Scale Type
Nom
Method Type
Molgen
Details
Class
HL7.GENETICS
Order/Observation
Observation
Short Name
Amino acid change
Display Name
Amino acid change Molgen Nom (Bld/Tiss)
Related Names
Frequently Asked Questions
What is LOINC code 48005-3?
LOINC code 48005-3 identifies "Amino acid change (pHGVS)". Human 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.
What does 48005-3 measure?
This code measures Amino acid change in Bld/Tiss. It belongs to the HL7.GENETICS class in the LOINC classification.
What is LOINC?
LOINC (Logical Observation Identifiers Names and Codes) is a universal standard for identifying laboratory and clinical observations. It is maintained by the Regenstrief Institute and used worldwide for health data exchange.