HBB NM_000518.5:c.79G A

Preferred Label : HBB NM_000518.5:c.79G A;

NCIt synonyms : Hemoglobin Beta c.79G A; HBB c.79G A; NM_000518.5:c.79G A; Beta-Globin c.79G A;

NCIt definition : A nucleotide substitution at position 79 of the coding sequence of the HBB gene where guanine has been mutated to adenine.;

NCI Metathesaurus CUI : CL1773723;

SNP ID : rs33950507;

Details

Origin ID

C185536;

UMLS CUI

C5669979;

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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