CDKN2A NP_000068.1:p.A30V

Preferred Label : CDKN2A NP_000068.1:p.A30V;

NCIt synonyms : p16INK4A Protein Variant A30V; Cyclin-Dependent Kinase Inhibitor 2A Protein Variant A30V; CDKN2A p.Ala30Val; Cyclin-Dependent Kinase 4 Inhibitor A Protein Variant Ala30Val; Cyclin-Dependent Kinase Inhibitor p16 Protein Variant Ala30Val; CDKN2A Ala30Val; p16(INK4a) Protein Variant Ala30Val; p16(INK4a) Protein Variant A30V; p16-INK4 Protein Variant Ala30Val; p16INK4A Protein Variant Ala30Val; NP_000068.1:p.A30V; Cyclin-Dependent Kinase Inhibitor 2A Protein Variant Ala30Val; CDK4I Protein Variant A30V; CDKN2A NP_000068.1:p.Ala30Val; CDKN2A p.A30V; NP_000068.1:p.Ala30Val; Cyclin-Dependent Kinase Inhibitor p16 Protein Variant A30V; Cyclin-Dependent Kinase 4 Inhibitor A Protein Variant A30V; CDKN2A A30V; CDK4I Protein Variant Ala30Val; p16-INK4 Protein Variant A30V;

NCIt definition : A change in the amino acid residue at position 30 in the cyclin-dependent kinase inhibitor 2 protein where alanine has been replaced by valine.;

NCI Metathesaurus CUI : CL544892;

Details

Origin ID

C146928;

UMLS CUI

C4687576;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_product_sequence_variation_encoded_by_gene_mutant
- CDKN2A Gene Mutation [NCIt concept]
- CDKN2A NM_000077.4:c.89C>T [NCIt concept]
gene_product_variant_of_gene_product
- CDKN2A Gene Product [NCIt concept]
- Cyclin-Dependent Kinase Inhibitor 2A [NCIt concept]
molecular_abnormality_involves_gene
- CDKN2A Gene [NCIt concept]

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