CDKN2A NM_000077.4:c.248_249delinsCT

Preferred Label : CDKN2A NM_000077.4:c.248_249delinsCT;

NCIt synonyms : INK4A c.248_249AC CT; CDKN2A c.248_249AC CT; MTS-1 c.248_249AC CT; CDKN2 c.248_249AC CT; MLM c.248_249AC CT; NM_000077.4:c.248_249AC CT; MTS1 c.248_249AC CT; CDK4I c.248_249AC CT; CDKN2A c.248_249delACinsCT; NM_000077.4:c.248_249delACinsCT; NM_000077.4:c.248_249delinsCT;

NCIt related terms : CDKN2A NM_000077.4:c.248_249delACinsCT;

NCIt definition : A complex substitution where the nucleotide sequence at positions 248 and 249 of the coding sequence of the CDKN2A gene has changed from adenine-cytosine to cytosine-thymine.;

NCI Metathesaurus CUI : CL544884;

Details

Origin ID

C146936;

UMLS CUI

C4687584;

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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