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  • The following terms were not found in MedGen: 032, 1005, 032-225-1005.

PHF6 NP_115834.1:p.R225X

MedGen UID:
1710077
Concept ID:
C5239311
Cell or Molecular Dysfunction
Synonyms: Centromere Protein 31 Arg225Xxx; Centromere Protein 31 R225X; NP_115834.1:p.Arg225Xxx; NP_115834.1:p.R225X; PHD Finger Protein 6 Arg225Xxx; PHD Finger Protein 6 R225X; PHD-Like Zinc Finger Protein Arg225Xxx; PHD-Like Zinc Finger Protein R225X; PHF6 Arg225Xxx; PHF6 NP_115834.1:p.Arg225Xxx; PHF6 p.Arg225Xxx; PHF6 p.R225X; PHF6 R225 Mutation; PHF6 R225X

Definition

A change in the amino acid residue at position 225 in PHD finger protein 6 where arginine has been replaced by another amino acid. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPHF6 NP_115834.1:p.R225X

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