RNF43 Gene Mutation

Preferred Label : RNF43 Gene Mutation;

NCIt synonyms : URCC Gene Mutation; Ring Finger Protein 43 Gene Mutation; RNF124 Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the RNF43 gene.;

NCI Metathesaurus CUI : CL539320;

Details

Origin ID

C141252;

UMLS CUI

C4683658;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_mutant_encodes_gene_product_sequence_variation
- RNF43 NP_060233.3:p.A169T [NCIt concept]
- RNF43 NP_060233.3:p.D140E [NCIt concept]
- RNF43 NP_060233.3:p.E318D [NCIt concept]
- RNF43 NP_060233.3:p.P154L [NCIt concept]
- RNF43 NP_060233.3:p.R127P [NCIt concept]
- RNF43 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- RNF43 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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