IthaID: 3896

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 132 (AAA>AA-) HGVS Name: HBB:c.399del
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as:

Comments: Found as a de novo mutation causing dominant phenotype β-thalassaemia major, in a 3-year-old male presented with severe anaemia. The frameshift mutation delayed the termination of translation, resulting in an elongated β-globin variant, with an additional 10 amino acids.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:N/A
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71973
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Zhou X, Chen T, Zhang Q, Qi M, Zhang L, Du J, Chi H, Shen B, Xu X, Lu Y, De novo HBB frameshift mutation in a patient with dominant β-thalassemia major., Int J Lab Hematol, 44(1), e21-e25, 2022 PubMed
Created on 2022-03-01 23:25:56, Last reviewed on (Show full history)

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