48004-6

LOINC 2.82

DNA change (c.HGVS)

DNA change

Definition

  • Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.

Component

  • DNA change

Specimen / system

  • Bld/Tiss

Class

  • HL7.GENETICS

Property

  • Find

Scale

  • Nom

Method

  • Molgen

Related names

  • Blood; Deoxyribonucleic acid; Exchange; Finding; Findings; Genetic; Genetics; Genomic; Heredity; Heritable; HL7.GENETICS; Inherited; Molecular genetics; MOLPATH.GENERAL; Nominal; PCR; Point in time; Random; Replace; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • Deoxyribonucleic acid
  • Exchange
  • Finding
  • Findings
  • Genetic
  • Genetics
  • Genomic
  • Heredity
  • Heritable
  • HL7.GENETICS
  • Inherited
  • Molecular genetics
  • MOLPATH.GENERAL
  • Nominal
  • PCR
  • Point in time
  • Random
  • Replace
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue