About: Missense Mutation Abnormality     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:DeprecatedClass, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Missense Mutation Abnormality
rdfs:subClassOf
Semantic_Type
  • Cell or Molecular Dysfunction
Preferred_Name
  • Missense Mutation Abnormality
OLD_PARENT
  • Mutation_Abnormality
UMLS_CUI
  • C1705737
Concept_Status
  • Retired_Concept
Legacy_Concept_Name
  • Missense_Mutation_Abnormality
FULL_SYN
  • Missense MutationSYNCI
  • Missense Mutation AbnormalityPTNCI
DEFINITION
  • A point mutation in a coding DNA sequence that causes a base change which results in an amino acid change in the protein product. This alteration may affect the stability and/or activity of the protein. A missense mutation abnormality may be heritable or occur spontaneously.NCI
DesignNote
  • Wed Jun 16 11:46:59 EDT 2010 - See 'Missense_Mutation'
code
  • C45585
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