CDKN2A NM_000077.4:c.248A C

Preferred Label : CDKN2A NM_000077.4:c.248A C;

NCIt synonyms : MLM c.248A C; CDKN2 c.248A C; NM_000077.4:c.248A C; MTS1 c.248A C; Cyclin Dependent Kinase Inhibitor 2A c.248A C; CDK4I c.248A C; INK4A c.248A C; MTS-1 c.248A C;

NCIt definition : A nucleotide substitution at position 248 of the coding sequence of the CDKN2A gene where adenine has been mutated to cytosine.;

NCI Metathesaurus CUI : CL544883;

Details

Origin ID

C146935;

UMLS CUI

C4687583;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- CDKN2A NP_000068.1:p.H83P [NCIt concept]
- CDKN2A Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- CDKN2A Gene [NCIt concept]

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