Terminology Service for NFDI4Health
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PALB2 Gene Mutation

Go to external page http://purl.obolibrary.org/obo/NCIT_C101641

A molecular genetic abnormality that refers to a change in the nucleotide sequence of the PALB2 gene. [ ]

Term info

Label

PALB2 Gene Mutation

Synonyms
  • FANCN Gene Mutation
  • Fanconi Anemia, Complementation Group N Gene Mutation
  • PALB2 Gene Mutation
  • PNCA3 Gene Mutation
  • Partner and Localizer of BRCA2 Gene Mutation
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

Display Name

PALB2 Gene Mutation

Preferred Name

PALB2 Gene Mutation

Semantic Type

Cell or Molecular Dysfunction

UMLS CUI

C3640153

code

C101641