GNAS NM_000516.5:c.680A T

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

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

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

NCI Metathesaurus CUI : CL544968;

SNP ID : rs121913494;

Details

Origin ID

C146965;

UMLS CUI

C4687610;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- GNAS NP_000507.1:p.Q227L [NCIt concept]
- GNAS Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- GNAS Gene [NCIt concept]

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