GNAS NM_000516.5:c.478C T

Preferred Label : GNAS NM_000516.5:c.478C T;

NCIt synonyms : GNAS Complex Locus Gene c.478C T; GNAS c.478C T; GNAS1 c.478C T; NM_000516.5:c.478C T; GSA c.478C T; GSP c.478C T;

NCIt definition : A nucleotide substitution at position 478 of the coding sequence of the GNAS gene where cytosine has been mutated to thymine.;

NCI Metathesaurus CUI : CL544974;

Details

Origin ID

C146955;

UMLS CUI

C4687600;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- GNAS NP_000507.1:p.R160C [NCIt concept]
- GNAS Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- GNAS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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