Non-Synonymous PTEN Gene Mutation

Preferred Label : Non-Synonymous PTEN Gene Mutation;

NCIt synonyms : Non-Synonymous PTEN Mutation; Non-Synonymous TEP1 Gene Mutation; Non-Synonymous MMAC1 Gene Mutation; Non-Synonymous Phosphatase and Tensin Homolog Gene Mutation; PTEN Gene Missense Mutation; Non-Synonymous Mutated in Multiple Advanced Cancers 1 Gene Mutation; PTEN Missense Mutation; Non-Synonymous PTEN1 Gene Mutation;

NCIt definition : A change in the nucleotide sequence in the PTEN gene that encodes an amino acid substitution in the phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN protein.;

NCI Metathesaurus CUI : CL1412982;

Details

Origin ID

C175695;

UMLS CUI

C5446684;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- PTEN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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