IthaID: 4024

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 15 (-GG, +C) HGVS Name: HBA2:c.46_47delinsC
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as:

Comments: This is a frameshift variation that deletes two nucleotides (GG) from codon 15 in exon 1 of the HBA2 gene and inserts a C nucleotide. Results in a shortened α-globin chain with a stop codon at codon 48. Fοund together with heterozygous Hb Constant Spring [IthaID: 418] in a person of Malay origin: Hb 12 g/dL, MCV 67.1 fl, MCH 20.2 pg.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33821
Size: 2 bp
Located at: α2

Other details

Type of Mutation: Insertion & Deletion
Ethnic Origin: Malay
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!


1Abdul Hamid, Faidatul Syazlin2023-05-19First report.
Created on 2023-05-22 09:00:05, Last reviewed on (Show full history)

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