94186-4

LOINC 2.82

Origin of germline genetic variant [Type]

Origin germline gen var

Definition

  • The source or inheritance of a specific germline variation found in an individual patient. Understanding the source can help determine the significance of a particular variant and its association with different diseases or syndromes. Germline variants are either inherited or de novo. Inherited variants can be maternal, paternal, or a combination of maternal and paternal. De novo variants are those that are not present in parental germline cells, but that arise in the egg or sperm prior to conception or just after the zygote is formed. [PMID: 27894357]

Component

  • Origin of germline genetic variant

Specimen / system

  • ^Patient

Class

  • MOLPATH

Property

  • Type

Scale

  • Nom

Related names

  • Genetics; Genomic; Heredity; Heritable; Inherited; Molecular pathology; MOLPATH; Nominal; Origin germline gen var; Point in time; Random; Typ

Index terms

  • Genetics
  • Genomic
  • Heredity
  • Heritable
  • Inherited
  • Molecular pathology
  • MOLPATH
  • Nominal
  • Origin germline gen var
  • Point in time
  • Random
  • Typ