GNAS NM_000516.5:c.679C G

Preferred Label : GNAS NM_000516.5:c.679C G;

NCIt synonyms : GNAS Complex Locus Gene c.679C G; GNAS c.679C G; GNAS1 c.679C G; NM_000516.5:c.679C G; GSA c.679C G; GSP c.679C G;

NCIt definition : A nucleotide substitution at position 679 of the coding sequence of the GNAS gene where cytosine has been mutated to guanine.;

NCI Metathesaurus CUI : CL544971;

Details

Origin ID

C146968;

UMLS CUI

C4687613;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- GNAS NP_000507.1:p.Q227E [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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