IthaID: 4020

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 14.9 kb deletion HGVS Name: NC_00016.10:g.168803_183737del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: A 14.9-kb deletion that spans the α-globin gene locus removing both α2 and α1 genes. Identified by single-molecule real-time (SMRT) long-read sequencing (LRS) technology. The exact breakpoints were confirmed by gap-PCR and Sanger sequencing.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 29666
Size: 14.935 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. Yuan Y, Zhou X, Deng J, Zhu Q, Peng Z, Chen L, Zou Y, Mao A, Meng W, Ma M, Wu H, Case report: Long-read sequencing identified a novel 14.9-kb deletion of the α-globin gene locus in a family with α-thalassemia in China., Front Genet, 14(0), 1156071, 2023 PubMed
Created on 2023-03-22 16:46:31, Last reviewed on 2024-02-08 15:02:38 (Show full history)

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