GNAS NP_000507.1:p.R201H

Preferred Label : GNAS NP_000507.1:p.R201H;

NCIt synonyms : GNAS Arg201His; GNAS p.Arg201His; Guanine Nucleotide-Binding Protein G(s) Subunit Alpha Isoforms Short R201H; NP_000507.1:p.R201H; Adenylate Cyclase-Stimulating G Alpha Protein R201H; GNAS R201H; GNAS p.R201H; GNAS NP_000507.1:p.Arg201His; Guanine Nucleotide-Binding Protein G(s) Subunit Alpha Isoforms Short Arg201His; NP_000507.1:p.Arg201His; Adenylate Cyclase-Stimulating G Alpha Protein Arg201His;

NCIt definition : A change in the amino acid residue at position 201 in the guanine nucleotide-binding protein G(s) subunit alpha isoforms short protein where arginine has been replaced by histidine.;

NCI Metathesaurus CUI : CL544977;

Details

Origin ID

C146958;

UMLS CUI

C4687603;

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.602G>A [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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