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CTNNB1 NP_001895.1:p.S33C

MedGen UID:
1792172
•Concept ID:
C5555731
•
Cell or Molecular Dysfunction
Synonyms: Beta Catenin S33C; Beta Catenin Ser33Cys; Beta-Catenin S33C; Beta-Catenin Ser33Cys; Catenin Beta-1 S33C; Catenin Beta-1 Ser33Cys; CTNNB S33C; CTNNB Ser33Cys; CTNNB1 NP_001895.1:p.Ser33Cys; CTNNB1 p.S33C; CTNNB1 p.Ser33Cys; CTNNB1 S33C; CTNNB1 S33C Mutation; CTNNB1 Ser33Cys; NP_001895.1:p.S33C; NP_001895.1:p.Ser33Cys

Definition

A change in the amino acid residue at position 33 in the catenin beta-1 protein where serine has been replaced by cysteine. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCTNNB1 NP_001895.1:p.S33C

Recent clinical studies

Diagnosis

Primary Ovarian Solid Pseudopapillary Neoplasm With CTNNB1 c.98C>G (p.S33C) Point Mutation.
Singh K, Patel N, Patil P, Paquette C, Mathews CA, Lawrence WD
Int J Gynecol Pathol 2018 Mar;37(2):110-116. doi: 10.1097/PGP.0000000000000396. PMID: 28463908

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