IthaID: 4041

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 3.8 kb deletion HGVS Name: NC_000016.10:g.173682_177493del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans approximately 3.8kb, starting from the 3'UTR of the HBA2 gene down to the 3'UTR of the HBA1 gene. Inherited together with the --SEA deletion. Reported as NC_000016.9:g.223681-227492del in literature.

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: 34545
Size: 3.811 kb
Deletion involves: α2, α1

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Xian J, Wang Y, He J, Li S, He W, Ma X, Li Q, Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China., Clin Appl Thromb Hemost, 28(0), 10760296221119807, 2022 PubMed
Created on 2023-06-30 15:06:54, Last reviewed on 2023-06-30 15:07:37 (Show full history)

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