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C186714Level 5

HBB NP_000509.1:p.E122Q

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the amino acid residue at position 122 in the hemoglobin subunit beta protein where glutamic acid has been replaced by glutamine.

**Synonyms:** - Beta-Globin E122Q - Beta-Globin Glu122Gln - HBB E121Q - HBB E122Q - HBB Glu121Gln - HBB Glu122Gln - HBB Hemoglobin D - HBB NP_000509.1:p.Glu122Gln - HBB p.E122Q - HBB p.Glu122Gln - Hemoglobin Beta Chain E122Q - Hemoglobin Beta Chain Glu122Gln - Hemoglobin D Variant - Hemoglobin Subunit Beta E121Q - Hemoglobin Subunit Beta E122Q - Hemoglobin Subunit Beta Glu121Gln - Hemoglobin Subunit Beta Glu122Gln - NP_000509.1:p.E122Q - NP_000509.1:p.Glu122Gln

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