Preferred Label : Germline CDKN2A Gene Mutation;
NCIt synonyms : Germline Cyclin-Dependent Kinase Inhibitor 2A Gene Mutation; Germline CDK4I Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the CDKN2A gene that originates in the gametes.;
Origin ID : C207622;
is_molecular_abnormality_of_disease
molecular_abnormality_involves_gene