Preferred Label : PAX5 NM_016734.2:c.547G A;
NCIt synonyms : PAX5 c.547G A; NM_016734.2:c.547G A; Paired Box Gene 5 c.547G A; BSAP c.547G A; Paired Box 5 c.547G A; ALL3 c.547G A;
NCIt definition : A nucleotide substitution at position 547 of the coding sequence of the PAX5 gene
where guanine has been mutated to adenine.;
NCI Metathesaurus CUI : CL937662;
SNP ID : rs398123063;
Origin ID : C158143;
UMLS CUI : C4764078;
Semantic type(s)
molecular_abnormality_involves_gene