IthaID: 4063

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 15 (-G, +CC) HGVS Name: HBA2:c.47delinsCC
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: This is an indel mutation that deletes a G nucleotide from codon 15 in exon 1 of the HBA2 gene and inserts two C nucleotides. Frameshift resulting in a shortened α-globin chain with a stop codon at codon 16 [AAG>TAA]. The mutation was found in one Malay individual with the Hb level of 12.2 g/dL, MCV level of 71.1 fl and MCH level of 23.2 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: 33822
Size: 1 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To the best of our knowledge, this is unpublished data.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 Syazlin2023-07-06First report.
Created on 2023-07-13 10:09:27, Last reviewed on 2023-07-13 10:13:06 (Show full history)

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