GNAS NP_000507.1:p.R160C

Preferred Label : GNAS NP_000507.1:p.R160C;

NCIt synonyms : GNAS NP_000507.1:p.Arg160Cys; Guanine Nucleotide-Binding Protein G(s) Subunit Alpha Isoforms Short Arg160Cys; NP_000507.1:p.Arg160Cys; Adenylate Cyclase-Stimulating G Alpha Protein Arg160Cys; Guanine Nucleotide-Binding Protein G(s) Subunit Alpha Isoforms Short R160C; NP_000507.1:p.R160C; Adenylate Cyclase-Stimulating G Alpha Protein R160C; GNAS Arg160Cys; GNAS p.Arg160Cys; GNAS R160C; GNAS p.R160C;

NCIt definition : A change in the amino acid residue at position 160 in the guanine nucleotide-binding protein G(s) subunit alpha isoforms short protein where arginine has been replaced by cysteine.;

NCI Metathesaurus CUI : CL544975;

Details

Origin ID

C146956;

UMLS CUI

C4687601;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_product_sequence_variation_encoded_by_gene_mutant
- GNAS Gene Mutation [NCIt concept]
- GNAS NM_000516.5:c.478C>T [NCIt concept]
gene_product_variant_of_gene_product
- GNAS Gene Product [NCIt concept]
- Guanine Nucleotide-Binding Protein G(s) Subunit Alpha Isoforms Short [NCIt concept]
molecular_abnormality_involves_gene
- GNAS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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