IthaID: 2177

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: 3'UTR +32 A>C HGVS Name: HBB:c.*32A>C
Hb Name: N/A Protein Info: N/A

Also known as: 3'UTR +1506 (A>C), Terminal CD +32 A>C

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β+
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 72050
Size: 1 bp
Located at: β
Specific Location: 3'UTR

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Other 3'UTR site (mRNA Processing)
Ethnic Origin: Chinese, Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Chen W, Zhang X, Shang X, Cai R, Li L, Zhou T, Sun M, Xiong F, Xu X, The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity., BMC Med. Genet. , 11(1), 31, 2010 PubMed
  2. Zhuang J, Zheng Y, Wang Y, Zhuang Q, Jiang Y, Xie Q, Zeng S, Zeng J, Identification of a new β-thalassaemia variant Term CD+32(HBB: c.32A>C) in two Chinese families., J. Clin. Pathol., 73(2), 1-4, 2020 PubMed
  3. Sen A, Seenappa V, Chakrabarti P, Dolai TK, First Report of the 3'-Untranslated Region +1506 (A>C) [NM_000518.5: c.*32A>C] mutation on the β-Globin Gene in the Indian Population., Hemoglobin, 2021 PubMed
Created on 2013-09-30 15:13:46, Last reviewed on 2021-12-15 14:02:42 (Show full history)

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