CDKN2A NM_000077.4:c.247C T

Preferred Label : CDKN2A NM_000077.4:c.247C T;

NCIt synonyms : CDK4I c.247C T; CDKN2A c.247C T; INK4A c.247C T; MTS-1 c.247C T; MLM c.247C T; CDKN2 c.247C T; NM_000077.4:c.247C T; MTS1 c.247C T; Cyclin Dependent Kinase Inhibitor 2A c.247C T;

NCIt definition : A nucleotide substitution at position 247 of the coding sequence of the CDKN2A gene where cytosine has been mutated to thymine.;

NCI Metathesaurus CUI : CL544881;

SNP ID : rs121913385;

Details

Origin ID

C146933;

UMLS CUI

C4687581;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- CDKN2A NP_000068.1:p.H83Y [NCIt concept]
- CDKN2A Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- CDKN2A Gene [NCIt concept]

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