CDKN2A Protein Variant

Preferred Label : CDKN2A Protein Variant;

NCIt synonyms : Cyclin-Dependent Kinase 4 Inhibitor A Protein Variant; p16-INK4 Protein Variant; p16INK4A Protein Variant; CDK4I Protein Variant; p16(INK4a) Protein Variant; Cyclin-Dependent Kinase Inhibitor 2A Protein Variant; Cyclin-Dependent Kinase Inhibitor p16 Protein Variant;

NCIt definition : A variation in the amino acid sequence for a protein encoded by the CDKN2A gene.;

NCI Metathesaurus CUI : CL544890;

Details

Origin ID

C146926;

UMLS CUI

C4687574;

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]
gene_product_sequence_variation_encoded_by_gene_mutant
- CDKN2A Gene Mutation [NCIt concept]
- CDKN2A NM_000077.4:c.151G>A [NCIt concept]
- CDKN2A NM_000077.4:c.152T>A [NCIt concept]
- CDKN2A NM_000077.4:c.247C>T [NCIt concept]
- CDKN2A NM_000077.4:c.248A>C [NCIt concept]
- CDKN2A NM_000077.4:c.248_249delinsCT [NCIt concept]
- CDKN2A NM_000077.4:c.322G>C [NCIt concept]
- CDKN2A NM_000077.4:c.322G>T [NCIt concept]
- CDKN2A NM_000077.4:c.389T>A [NCIt concept]
- CDKN2A NM_000077.4:c.439G>A [NCIt concept]
- CDKN2A NM_000077.4:c.442G>A [NCIt concept]
- CDKN2A NM_000077.4:c.89C>T [NCIt concept]
gene_product_variant_of_gene_product
- CDKN2A Gene Product [NCIt concept]
molecular_abnormality_involves_gene
- CDKN2A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients