HBB NM_000518.5:c.19G A

Preferred Label : HBB NM_000518.5:c.19G A;

NCIt synonyms : HBB c.19G A; NM_000518.5:c.19G A; Beta-Globin c.19G A; Hemoglobin Beta c.19G A;

NCIt definition : A nucleotide substitution at position 19 of the coding sequence of the HBB gene where guanine has been mutated to adenine.;

NCI Metathesaurus CUI : CL1406770;

SNP ID : rs33930165;

Details

Origin ID

C172939;

UMLS CUI

C5419970;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- HBB Gene [NCIt concept]

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