HBB NM_000518.4:c.20A T

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;

Détails

Origin ID

C156902;

UMLS CUI

C4745157;

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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