PDGFRA NP_006197.1:p.K385X

Preferred Label : PDGFRA NP_006197.1:p.K385X;

NCIt synonyms : NP_006197.1:p.Lys385Xxx; Platelet-Derived Growth Factor Receptor Alpha K385X; PDGFRA Lys385Xxx; PDGFRA NP_006197.1:p.Lys385Xxx; CD140a Antigen Lys385Xxx; PDGFRA p.Lys385Xxx; NP_006197.1:p.K385X; PDGFRA K385X Mutation; PDGFRA K385X; CD140a Antigen K385X; PDGFRA p.K385X; PDGFRA K385 Mutant; PDGFR-Alpha Lys385Xxx; PDGFR-Alpha K385X; PDGFRA K385 Mutation; PDGFRA p.K385 Mutation; Platelet-Derived Growth Factor Receptor Alpha Lys385Xxx;

NCIt definition : A change in the amino acid residue at position 385 in the platelet-derived growth factor receptor alpha protein where lysine has been replaced by another amino acid.;

NCI Metathesaurus CUI : CL1662052;

Details

Origin ID

C179243;

UMLS CUI

C5555549;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_product_variant_of_gene_product
- Platelet-Derived Growth Factor Receptor Alpha [NCIt concept]
is_molecular_abnormality_of_disease
- Myxoid Glioneuronal Tumor [NCIt concept]
- Myxoid Glioneuronal Tumor of the Septum Pellucidum [NCIt concept]
- Recurrent Myxoid Glioneuronal Tumor [NCIt concept]
molecular_abnormality_involves_gene
- PDGFRA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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