Preferred Label : Germline HAVCR2 Gene Mutation;
NCIt synonyms : Germline Hepatitis A Virus Cellular Receptor 2 Gene Mutation; Germline TIM3 Gene Mutation; Germline CD366 Gene Mutation; Germline TIMD3 Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the HAVCR2 gene that originates in the gametes.;
NCI Metathesaurus CUI : CL1907324;
Origin ID : C200048;
UMLS CUI : C5856064;
Molecular abnormality of diseases
Semantic type(s)
molecular_abnormality_involves_gene