CDKN2A NP_000068.1:p.D108H

Preferred Label : CDKN2A NP_000068.1:p.D108H;

NCIt synonyms : CDKN2A p.Asp108His; Cyclin-Dependent Kinase Inhibitor 2A Protein Variant D108H; Cyclin-Dependent Kinase Inhibitor 2A Protein Variant Asp108His; p16INK4A Protein Variant D108H; CDK4I Protein Variant D108H; p16INK4A Protein Variant Asp108His; CDK4I Protein Variant Asp108His; p16-INK4 Protein Variant D108H; p16-INK4 Protein Variant Asp108His; Cyclin-Dependent Kinase 4 Inhibitor A Protein Variant D108H; Cyclin-Dependent Kinase Inhibitor p16 Protein Variant D108H; Cyclin-Dependent Kinase 4 Inhibitor A Protein Variant Asp108His; Cyclin-Dependent Kinase Inhibitor p16 Protein Variant Asp108His; CDKN2A NP_000068.1:p.Asp108His; NP_000068.1:p.D108H; NP_000068.1:p.Asp108His; p16(INK4a) Protein Variant D108H; CDKN2A D108H; CDKN2A p.D108H; p16(INK4a) Protein Variant Asp108His; CDKN2A Asp108His;

NCIt definition : A change in the amino acid residue at position 108 in the cyclin-dependent kinase inhibitor 2 protein where aspartic acid has been replaced by histidine.;

NCI Metathesaurus CUI : CL544874;

Details

Origin ID

C146942;

UMLS CUI

C4687589;

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.322G>C [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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