OntologiesncitclassesNCIT:C17666   
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Germline Variation
http://purl.obolibrary.org/obo/NCIT_C17666

Any mutation that appears in the gametes and which will therefore be transmitted to the progeny with some frequency.

Exact Synonyms
Germline Mutation Abnormality
germline mutation
Germline Mutation
Germline Variant
Germline Variation
GERMLINE VARIATION
hereditary mutation
Hereditary Mutation
Simple Germline Variation
class Information
ALT_DEFINITION
  • A gene change in the body's reproductive cells (egg or sperm) that becomes incorporated into the DNA of every cell in the body of offspring; germline mutations are passed on from parents to offspring.
  • Any inheritable variation in the DNA that is transmitted to the progeny with some frequency.
code

C17666

Contributing_Source
  • CDISC
  • GDC
Legacy Concept Name

Germline_Mutation

Maps_To
  • Germline
  • Simple Germline Variation
Preferred_Name

Germline Variation

Semantic_Type

Cell or Molecular Dysfunction

UMLS_CUI

C0206530

class Relations