Preferred Label : HBB NM_000518.4:c.20A T;
NCIt synonyms : Hemoglobin Beta c.20A T; HBB c.20A T; NM_000518.4:c.20A T; Beta-Globin c.20A T;
NCIt definition : A nucleotide substitution at position 20 of the coding sequence of the HBB gene where
adenine has been mutated to thymine.;
NCI Metathesaurus CUI : CL935929;
SNP ID : rs334;
Origin ID : C156902;
UMLS CUI : C4745157;
- Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene