IthaID: 3885

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 17 (-C) HGVS Name: HBA2:c.54delC
Hb Name: N/A Protein Info: α2 17(A15) Val>Val

Context nucleotide sequence:

Also known as: Hb Kunming

Comments: Found in a 26-year-old female presented with slight α-thalassemia phenotypes with hypochromic and microcytic erythrocytes. According to mutalyzer software, the nucleotide frameshift would result in a shortened α-globin chain with a total of 48 amino acids.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33829
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Zhang J, Xie M, Peng Z, Zhou X, Zhao T, Jin C, Yan Y, Zeng X, Li D, Zhang Y, Su J, Feng N, He J, Yao X, Lv T, Zhu B, Five novel globin gene mutations identified in five Chinese families by next-generation sequencing., Mol Genet Genomic Med, 9(12), e1835, 2021 PubMed
Created on 2022-01-04 19:05:36, Last reviewed on 2022-07-12 11:08:32 (Show full history)

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