GNAS NM_000516.5:c.601C A

Preferred Label : GNAS NM_000516.5:c.601C A;

NCIt synonyms : GNAS Complex Locus Gene c.601C A; GSP c.601C A; GNAS c.601C A; GNAS1 c.601C A; NM_000516.5:c.601C A; GSA c.601C A;

NCIt definition : A nucleotide substitution at position 601 of the coding sequence of the GNAS gene where cytosine has been mutated to adenine.;

NCI Metathesaurus CUI : CL544980;

SNP ID : rs11554273;

Details

Origin ID

C146961;

UMLS CUI

C4687606;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- GNAS NP_000507.1:p.R201S [NCIt concept]
- GNAS Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- GNAS Gene [NCIt concept]

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