GNAS NM_000516.5:c.680A G

Preferred Label : GNAS NM_000516.5:c.680A G;

NCIt synonyms : GNAS c.680A G; GNAS1 c.680A G; NM_000516.5:c.680A G; GSA c.680A G; GNAS Complex Locus Gene c.680A G; GSP c.680A G;

NCIt definition : A nucleotide substitution at position 680 of the coding sequence of the GNAS gene where adenine has been mutated to guanine.;

NCI Metathesaurus CUI : CL544966;

SNP ID : rs121913494;

Details

Origin ID

C146963;

UMLS CUI

C4687608;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- GNAS NP_000507.1:p.Q227R [NCIt concept]
- GNAS Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- GNAS Gene [NCIt concept]

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