GNAS NM_000516.5:c.601C T

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

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

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

NCI Metathesaurus CUI : CL544978;

SNP ID : rs11554273;

Details

Origin ID

C146959;

UMLS CUI

C4687604;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- GNAS NP_000507.1:p.R201C [NCIt concept]
- GNAS Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- GNAS Gene [NCIt concept]

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