48005-3

LOINC 2.82

Amino acid change (pHGVS)

Amino acid change

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.

Component

  • Amino acid change

Specimen / system

  • Bld/Tiss

Class

  • HL7.GENETICS

Property

  • Find

Scale

  • Nom

Method

  • Molgen

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

Index terms

  • 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