53045-1

LOINC 2.82

Reference sequence alteration [Identifier]

Ref sequence alteration

Definition

  • Human Genome Variation Society (HGVS) nomenclature for conveying an alteration to the associated reference sequences used to define the genome as a basis for comparison with actual results.

Component

  • Reference sequence alteration

Specimen / system

  • Bld/Tiss

Class

  • HL7.GENETICS

Property

  • Prid

Scale

  • Nom

Method

  • Molgen

Related names

  • Blood; Genetic; Genetics; Genomic; HL7.GENETICS; Identity or presence; Molecular genetics; MOLPATH.GENERAL; Nominal; PCR; Point in time; Random; Ref Sequence; Ref sequence alteration; RefSeq; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • Genetic
  • Genetics
  • Genomic
  • HL7.GENETICS
  • Identity or presence
  • Molecular genetics
  • MOLPATH.GENERAL
  • Nominal
  • PCR
  • Point in time
  • Random
  • Ref Sequence
  • Ref sequence alteration
  • RefSeq
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue